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University of Helsinki
1.
Andersen, Mette.
The grey zone between type 1 and type 2 diabetes : genetic aspects of diabetes in adults.
Degree: Institute of Clinical Medicine; Folkhälsan Research Center, 2012, University of Helsinki
URL: http://hdl.handle.net/10138/37472
► In the last decades the prevalence of diabetes has increased dramatically. Diabetes is a complex disease often subdivided into type 1 diabetes, characterized by autoimmune…
(more)
▼ In the last decades the prevalence of diabetes has increased dramatically. Diabetes is a complex disease often subdivided into type 1 diabetes, characterized by autoimmune destruction of the insulin-producing beta-cells, and type 2 diabetes, characterized by insulin resistance and some degree of reduced insulin secretion. However, type 1 diabetes-associated autoantibodies are present in up to 11% of European patients diagnosed with type 2 diabetes. This autoimmune subtype of adult-onset diabetes is termed latent autoimmune diabetes in adults (LADA). For childhood-onset type 1 and type 2 diabetes several disease-associated genetic regions have been identified, whereas much less is known about the genetic predisposition to LADA and adult-onset type 1 diabetes.
The aims were to compare LADA and type 1 diabetes patients diagnosed at >35 years, focusing on gene variants predisposing to type 1 or type 2 diabetes and zinc transporter type 8 autoantibodies (ZnT8A), as well as to assess genetic heterogeneity in LADA. Moreover, phenotypic associations of type 1 diabetes risk variants were assessed in LADA patients and in non-diabetic adults.
LADA shared a genetic predisposition with both type 1 (HLA-DQB1, PTPN22, and CTLA4) and type 2 diabetes (SLC30A8 and TCF7L2). Compared with adult-onset type 1 diabetes LADA differed genetically, with respect to both type 1 and type 2 diabetes-risk variants, and immunologically, with respect to prevalence and persistence of ZnT8A. Genetic heterogeneity in LADA was attributed to both GADA reactivity and family history of type 1 diabetes. GADA reactivity was associated with higher frequencies of the type 1 diabetes-risk variants (HLA-DQB1, PTPN22, and CTLA4) and lower frequency of the type 2 diabetes-risk variants (SLC30A8 and FTO). Family history of type 1 diabetes was associated with increased frequencies of HLA-DQB1-risk genotypes and reduced frequencies of TCF7L2-risk genotypes.
In non-diabetic adults, HLA-DQ and PTPN22 were associated with GADA positivity. Even though the type 1 diabetes-risk genotypes were not associated with progression to non-insulin-dependent diabetes in these individuals, those individuals carrying a higher number of type 1 diabetes-risk genotypes were unable to increase the insulin secretion to a level similar to carriers of a lower number of risk genotypes in response to reduced insulin sensitivity over time. Furthermore, in both LADA and type 2 diabetes patients type 1 diabetes-risk variants were associated with reduced insulin secretion.
Our data suggest that LADA is a slowly progressive form of autoimmune diabetes distinct from type 1 diabetes, and that type 1 diabetes-risk variants signify a mild reduction in beta-cell function in non-diabetic adults as well as in LADA and type 2 diabetes patients.
Diabetes (sokeritauti) on monimuotoinen sairausryhmä, joka yleensä jaetaan kahteen päämuotoon. Tyypin 1 diabetes on autoimmuunisairaus, jossa kehon oma puolustusjärjestelmä tuhoaa haiman insuliinia tuottavat beetasolut. Tyypin 2 diabetekseen puolestaan…
Subjects/Keywords: genetic epidemiology; genetic epidemiology
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APA (6th Edition):
Andersen, M. (2012). The grey zone between type 1 and type 2 diabetes : genetic aspects of diabetes in adults. (Doctoral Dissertation). University of Helsinki. Retrieved from http://hdl.handle.net/10138/37472
Chicago Manual of Style (16th Edition):
Andersen, Mette. “The grey zone between type 1 and type 2 diabetes : genetic aspects of diabetes in adults.” 2012. Doctoral Dissertation, University of Helsinki. Accessed January 18, 2021.
http://hdl.handle.net/10138/37472.
MLA Handbook (7th Edition):
Andersen, Mette. “The grey zone between type 1 and type 2 diabetes : genetic aspects of diabetes in adults.” 2012. Web. 18 Jan 2021.
Vancouver:
Andersen M. The grey zone between type 1 and type 2 diabetes : genetic aspects of diabetes in adults. [Internet] [Doctoral dissertation]. University of Helsinki; 2012. [cited 2021 Jan 18].
Available from: http://hdl.handle.net/10138/37472.
Council of Science Editors:
Andersen M. The grey zone between type 1 and type 2 diabetes : genetic aspects of diabetes in adults. [Doctoral Dissertation]. University of Helsinki; 2012. Available from: http://hdl.handle.net/10138/37472

Rutgers University
2.
Bosacchi, Massimo, 1978-.
The development of genetic markers for plastid transformation in higher plants.
Degree: PhD, Plant Biology, 2016, Rutgers University
URL: https://rucore.libraries.rutgers.edu/rutgers-lib/51236/
► The four studies that comprise my dissertation were undertaken in an effort to develop new selectable marker systems and expression elements that could make chloroplast…
(more)
▼ The four studies that comprise my dissertation were undertaken in an effort to develop new selectable marker systems and expression elements that could make chloroplast transformation possible in monocot crop species. For my first project, I developed a new selectable marker system for nuclear transformation. I identified seven putative lincosamide-tolerance genes from medical studies and modified them for expression in plants. I then tested them as selectable markers for Agrobacterium mediated transformation of tobacco and generated transgenic plants with high efficiency from four of them: lnuAN2s, lnuBs, lnuDs and lnuFs. These four genes were then tested in Arabidopsis and potato. The lnuAN2s gene yielded transgenic events under lincosamide selection with similar transformation efficiencies as kanamycin and gentamicin. The performance of the new lnu marker genes makes this lincomycin selection scheme a valuable new tool for plant biologists. For my second project, I sequenced the plastid genomes of three maize lines important to transformation and breeding. The sequence was used to construct a maize-specific plastid-targeting vector and a powerful chimeric promoter for high expression in non-green tissue. I also sequenced the plastid genomes of three cytoplasmic male sterile lines, and used this information for an evolutionary study confirming a single origin and maternal co-transmission of the mitochondrial cms-T trait. For my third project I tested an herbicidal selection scheme for plastid transformation in tobacco. The glyphosate acetyltransferase (gat) gene, in combination with the chimeric maize expression element, provided protection to transplastomic cells under glyphosate selection. Because glyphosate targets a pathway that is universal in plants, the gat gene may work as a plastid marker gene across a wider range of species. For my fourth project I tested lnu genes as primary selectable marker genes for plastid transformation in tobacco. I constructed plastid-targeting vectors carrying the four efficacious lnu genes identified in my earlier study. This set of experiments did not yield transplastomic events, but I obtained five lincosamide-resistant mutants under selection in tissue culture. I sequenced the plastid rrn23 region of each line to identify the mutation responsible for the resistant phenotype.
Advisors/Committee Members: Maliga, Pal (chair), Messing, Joachim (internal member), Gallavotti, Andrea (internal member), Dong, Juan (internal member), Lutz, Kerry (outside member).
Subjects/Keywords: Plant genetic engineering; Genetic transformation
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MLA ·
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APA (6th Edition):
Bosacchi, Massimo, 1. (2016). The development of genetic markers for plastid transformation in higher plants. (Doctoral Dissertation). Rutgers University. Retrieved from https://rucore.libraries.rutgers.edu/rutgers-lib/51236/
Chicago Manual of Style (16th Edition):
Bosacchi, Massimo, 1978-. “The development of genetic markers for plastid transformation in higher plants.” 2016. Doctoral Dissertation, Rutgers University. Accessed January 18, 2021.
https://rucore.libraries.rutgers.edu/rutgers-lib/51236/.
MLA Handbook (7th Edition):
Bosacchi, Massimo, 1978-. “The development of genetic markers for plastid transformation in higher plants.” 2016. Web. 18 Jan 2021.
Vancouver:
Bosacchi, Massimo 1. The development of genetic markers for plastid transformation in higher plants. [Internet] [Doctoral dissertation]. Rutgers University; 2016. [cited 2021 Jan 18].
Available from: https://rucore.libraries.rutgers.edu/rutgers-lib/51236/.
Council of Science Editors:
Bosacchi, Massimo 1. The development of genetic markers for plastid transformation in higher plants. [Doctoral Dissertation]. Rutgers University; 2016. Available from: https://rucore.libraries.rutgers.edu/rutgers-lib/51236/
3.
Satishkumar, M V.
Simultaneous scheduling of machines and Agvs using
evolutionary optimization algorithms.
Degree: 2010, Jawaharlal Nehru Technological University
URL: http://shodhganga.inflibnet.ac.in/handle/10603/2255
► High degree of flexibility and quick response times have become essential features of modern manufacturing systems where customers are demanding for a variety of products…
(more)
▼ High degree of flexibility and quick response times
have become essential features of modern manufacturing systems
where customers are demanding for a variety of products with
reduced product life cycles. Flexible manufacturing system (FMS) is
proved to be the right answer to meet these challenges of global
competition. The performance of an FMS is highly dependent on the
selection of the right scheduling policy for the control system.
Traditionally scheduling problems consider machines as the only
constraining resources but this is no longer correct as material
handling equipment is becoming more and more valuable resource in
an FMS. Hence its operations should be optimized and above all
synchronized with machine operations. Scheduling of an FMS is a
well known NP-hard problem which is very complex, due to additional
considerations like material handling and alternative routing.
Literature reveals that, in many of the cases scheduling of both
the machines and material handling system was addressed
independently. Hence in this work an attempt has been made to
schedule both of them simultaneously. Evolutionary algorithms have
proved themselves as a better alternative for many of the
optimization problems like scheduling.
Advisors/Committee Members: Rao, C S P, Rangajanardhana, G.
Subjects/Keywords: Genetic Algorithms
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❌
APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
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APA (6th Edition):
Satishkumar, M. V. (2010). Simultaneous scheduling of machines and Agvs using
evolutionary optimization algorithms. (Thesis). Jawaharlal Nehru Technological University. Retrieved from http://shodhganga.inflibnet.ac.in/handle/10603/2255
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Satishkumar, M V. “Simultaneous scheduling of machines and Agvs using
evolutionary optimization algorithms.” 2010. Thesis, Jawaharlal Nehru Technological University. Accessed January 18, 2021.
http://shodhganga.inflibnet.ac.in/handle/10603/2255.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Satishkumar, M V. “Simultaneous scheduling of machines and Agvs using
evolutionary optimization algorithms.” 2010. Web. 18 Jan 2021.
Vancouver:
Satishkumar MV. Simultaneous scheduling of machines and Agvs using
evolutionary optimization algorithms. [Internet] [Thesis]. Jawaharlal Nehru Technological University; 2010. [cited 2021 Jan 18].
Available from: http://shodhganga.inflibnet.ac.in/handle/10603/2255.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Satishkumar MV. Simultaneous scheduling of machines and Agvs using
evolutionary optimization algorithms. [Thesis]. Jawaharlal Nehru Technological University; 2010. Available from: http://shodhganga.inflibnet.ac.in/handle/10603/2255
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
4.
Lasek-Nesselquist, Erica.
Population biology and Comparative Genomics of Giardia
duodenalis Assemblages.
Degree: PhD, Division of Biology and Medicine. Ecological and
Evolutionary Biology, 2009, Brown University
URL: https://repository.library.brown.edu/studio/item/bdr:230/
► Giardia duodenalis is a major cause of diarrheal disease worldwide and eludes effective characterization at the population level due to the fact that the majority…
(more)
▼ Giardia duodenalis is a major cause of diarrheal
disease worldwide and eludes effective characterization at the
population level due to the fact that the majority of genotypes
remain refractory to culture. Most of the biology of Giardia is
poorly understood including how Giardia causes sickness as
virulence factors and toxins remain unidentified. Additionally, the
prevalence and distribution of G. duodenalis among mammalian and
even vertebrate species, the transmission dynamics of G. duodenalis
between host species and whether
genetic interactions occur between
individuals require further elucidation. Although considered an
asexual organism, recent discoveries suggest periodic recombination
events. The question of whether Giardia has sex ties in with
species diversity and transmission dynamics. Seven genetically
distinct lineages, or Assemblages A-G define Giardia duodenalis.
Assemblages A and B infect virtually all vertebrates but are the
only two Assemblages capable of infecting humans. Assemblages C-G
appear to be host-specific. Only Assemblages A and B are considered
zoonotic but the presence of zoonotic and non-zoonotic genotypes
within the same animal host at the same time provides opportunity
for
genetic interactions. Thus, understanding the prevalence and
distribution of Assemblages A and B in wildlife is essential to
controlling the spread of this parasite. My thesis involves
exploring various aspects of Giardia duodenalis population biology
using different scales of molecular data. Chapters one and two
examine the molecular diversity and zoonotic potential of Giardia
duodenalis in marine vertebrates. I also explore geographic and
host species distributions and attempt to identify the major
factors responsible for the spread of this parasite within the
marine environment. Chapters 3 and 4 focus on defining populations
or Assemblage boundaries. They rely on sequencing 2-7 molecular
markers from each individual to address the issue of
genetic
exchange within and between Giardia duodenalis assemblages. These
results allow us to evaluate the potential for generating new
zoonoses and to determine whether assemblages represent distinct
species. The final chapter employs a comparative genomic approach
to more thoroughly define intra and inter assemblage differences of
Assemblages A and B and identify any potential
genetic interactions
that blur population boundaries.
Advisors/Committee Members: Sogin, Mitchell (director), Rand, David (director), Mark Welch, David (reader), Huber, Julie (reader), Katz, Laura (reader).
Subjects/Keywords: genetic exchange
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❌
APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Lasek-Nesselquist, E. (2009). Population biology and Comparative Genomics of Giardia
duodenalis Assemblages. (Doctoral Dissertation). Brown University. Retrieved from https://repository.library.brown.edu/studio/item/bdr:230/
Chicago Manual of Style (16th Edition):
Lasek-Nesselquist, Erica. “Population biology and Comparative Genomics of Giardia
duodenalis Assemblages.” 2009. Doctoral Dissertation, Brown University. Accessed January 18, 2021.
https://repository.library.brown.edu/studio/item/bdr:230/.
MLA Handbook (7th Edition):
Lasek-Nesselquist, Erica. “Population biology and Comparative Genomics of Giardia
duodenalis Assemblages.” 2009. Web. 18 Jan 2021.
Vancouver:
Lasek-Nesselquist E. Population biology and Comparative Genomics of Giardia
duodenalis Assemblages. [Internet] [Doctoral dissertation]. Brown University; 2009. [cited 2021 Jan 18].
Available from: https://repository.library.brown.edu/studio/item/bdr:230/.
Council of Science Editors:
Lasek-Nesselquist E. Population biology and Comparative Genomics of Giardia
duodenalis Assemblages. [Doctoral Dissertation]. Brown University; 2009. Available from: https://repository.library.brown.edu/studio/item/bdr:230/

Wake Forest University
5.
Zhou, Xin.
Measurements Associated With Learning More Secure Computer Configuration Parameters.
Degree: 2015, Wake Forest University
URL: http://hdl.handle.net/10339/57131
► To defend against a cyber attack in which the attacker searches the network for vulnerable machines, most people will install some specific security software that…
(more)
▼ To defend against a cyber attack in which the attacker searches the network for vulnerable machines, most people will install some specific security software that cost some money, or download the newest patches for the softwares to avoid some vulnerabilities. Neither way can be efficient especially when attacks are always updated. Reconnaissance is the essential part of a cyber attack during which the attacker is to learn about vulnerabilities of the targeted machines, including credentials, software versions, and misconfigured settings. Moving target strategy then can be implemented specifically against this part of an attack. Theoretically, a change in configuration during the construction of an exploit will alter the computer such that the machine no longer contains the same vulnerabilities discovered during reconnaissance, thereby rendering the initial reconnaissance step ineffective.
Subjects/Keywords: Genetic Alogrithm
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APA ·
Chicago ·
MLA ·
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CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Zhou, X. (2015). Measurements Associated With Learning More Secure Computer Configuration Parameters. (Thesis). Wake Forest University. Retrieved from http://hdl.handle.net/10339/57131
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Zhou, Xin. “Measurements Associated With Learning More Secure Computer Configuration Parameters.” 2015. Thesis, Wake Forest University. Accessed January 18, 2021.
http://hdl.handle.net/10339/57131.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Zhou, Xin. “Measurements Associated With Learning More Secure Computer Configuration Parameters.” 2015. Web. 18 Jan 2021.
Vancouver:
Zhou X. Measurements Associated With Learning More Secure Computer Configuration Parameters. [Internet] [Thesis]. Wake Forest University; 2015. [cited 2021 Jan 18].
Available from: http://hdl.handle.net/10339/57131.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Zhou X. Measurements Associated With Learning More Secure Computer Configuration Parameters. [Thesis]. Wake Forest University; 2015. Available from: http://hdl.handle.net/10339/57131
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Harvard University
6.
O'Connor, Luke Jen.
Genetic Architecture of Common Diseases and Complex Traits.
Degree: PhD, 2019, Harvard University
URL: http://nrs.harvard.edu/urn-3:HUL.InstRepos:42029501
► Over the last decade, genome-wide association studies (GWAS) have revolutionized the study of disease. For the first time, the genetic architectures of common diseases and…
(more)
▼ Over the last decade, genome-wide association studies (GWAS) have revolutionized the study of disease. For the first time, the genetic architectures of common diseases and complex traits can be observed, their associations mapped and mined; and with these advances have come new mysteries: where heritability resides, how it is mediated, and why it is as it is. In this thesis, I introduce statistical methods to probe the genetic architecture of common diseases and complex traits. In chapter I, I ask why it is that complex traits are so polygenic. I show that negative selection flattens the distribution of heritability across the genome relative to the underlying biology. In chapter II, I describe the landscape of pleiotropy across complex traits. I show that pleiotropy is strongest among highly polygenic traits with shared causal cell types. In chapter III, I develop method to infer causal relationships between complex traits. This method harnesses the entire polygenic signal for each trait and quantifies the asymmetry in their pleiotropic effect-size distribution, and I show that it recapitulates known biology and suggests intriguing new hypotheses.
Medical Sciences
Advisors/Committee Members: Neale, Ben (advisor), Kellis, Manolis (committee member), Sunyaev, Shamil (committee member), Robinson, Elise (committee member).
Subjects/Keywords: Genetic architecture
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❌
APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
O'Connor, L. J. (2019). Genetic Architecture of Common Diseases and Complex Traits. (Doctoral Dissertation). Harvard University. Retrieved from http://nrs.harvard.edu/urn-3:HUL.InstRepos:42029501
Chicago Manual of Style (16th Edition):
O'Connor, Luke Jen. “Genetic Architecture of Common Diseases and Complex Traits.” 2019. Doctoral Dissertation, Harvard University. Accessed January 18, 2021.
http://nrs.harvard.edu/urn-3:HUL.InstRepos:42029501.
MLA Handbook (7th Edition):
O'Connor, Luke Jen. “Genetic Architecture of Common Diseases and Complex Traits.” 2019. Web. 18 Jan 2021.
Vancouver:
O'Connor LJ. Genetic Architecture of Common Diseases and Complex Traits. [Internet] [Doctoral dissertation]. Harvard University; 2019. [cited 2021 Jan 18].
Available from: http://nrs.harvard.edu/urn-3:HUL.InstRepos:42029501.
Council of Science Editors:
O'Connor LJ. Genetic Architecture of Common Diseases and Complex Traits. [Doctoral Dissertation]. Harvard University; 2019. Available from: http://nrs.harvard.edu/urn-3:HUL.InstRepos:42029501

George Mason University
7.
Wilbert, Tammy R.
Patterns and Processes of Genetic Diversity in the Endangered San Joaquin Kit Fox
.
Degree: 2014, George Mason University
URL: http://hdl.handle.net/1920/8936
► Survival of the endangered San Joaquin kit fox (SJKF; Vulpes macrotis mutica) is challenged by reduced and fragmented habitat resulting from anthropogenic land uses in…
(more)
▼ Survival of the endangered San Joaquin kit fox (SJKF; Vulpes macrotis mutica) is challenged by reduced and fragmented habitat resulting from anthropogenic land uses in the Central Valley of California. Because the SJKF is adapted to arid landscapes and utilizes large home ranges to prey on kangaroo rats,
genetic techniques are very useful to study these elusive animals. We used annual noninvasive
genetic surveys from 2009 to 2011 to document the kit foxes on the Topaz Solar Farms (TSF) in San Luis Obispo Co., California, prior to the construction of the solar facility. We identified 45 individuals from 351 fresh scat samples and found kit foxes predominantly used the annual grasslands and rarely used agricultural lands. Second, we conducted 3 years of systematic transect surveys for scat throughout the Ciervo-Panoche area. We identified 93 kit foxes, with half of the individuals carrying a mtDNA haplotype with a 16bp deletion that had not been previously identified. Next, we used 795 scat and tissue samples collected over a period of 20 years to ascertain landscape level patterns of connectivity and population dynamics of kit foxes in the San Joaquin Valley. We found 3 geographically and genetically distinct groups that are highly disconnected and have undergone a 76% reduction from their estimated historic population size. Finally, we used pyrosequencing to characterize three major histocompatibility (MHC) genes that have been shown to play a role in immunity. We selected a subset of individuals from two relatively stable natural environments and compared their patterns of MHC variation to kit foxes adapted to the urban environment in Bakersfield, CA. Every gene (DQA, DQB, and DRB) was polygenic with varying degrees of polymorphism, although DRB alleles translated into a greater number of unique antigen binding sites, and thus greater immune system diversity. Urban and wild populations had similar allelic diversity, and each carried unique alleles. Each of these studies resulted from long-term collaborative efforts from a team of researchers that are working closely with federal, state and private agencies responsible for the protection of the endangered SJKF. The results of our research on patterns of
genetic diversity and connectivity are already playing an important role in the design of SJKF conservation and management plans.
Advisors/Committee Members: Gillevet, Patrick M (advisor).
Subjects/Keywords: genetic diversity
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❌
APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Wilbert, T. R. (2014). Patterns and Processes of Genetic Diversity in the Endangered San Joaquin Kit Fox
. (Thesis). George Mason University. Retrieved from http://hdl.handle.net/1920/8936
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Wilbert, Tammy R. “Patterns and Processes of Genetic Diversity in the Endangered San Joaquin Kit Fox
.” 2014. Thesis, George Mason University. Accessed January 18, 2021.
http://hdl.handle.net/1920/8936.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Wilbert, Tammy R. “Patterns and Processes of Genetic Diversity in the Endangered San Joaquin Kit Fox
.” 2014. Web. 18 Jan 2021.
Vancouver:
Wilbert TR. Patterns and Processes of Genetic Diversity in the Endangered San Joaquin Kit Fox
. [Internet] [Thesis]. George Mason University; 2014. [cited 2021 Jan 18].
Available from: http://hdl.handle.net/1920/8936.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Wilbert TR. Patterns and Processes of Genetic Diversity in the Endangered San Joaquin Kit Fox
. [Thesis]. George Mason University; 2014. Available from: http://hdl.handle.net/1920/8936
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Victoria University of Wellington
8.
Downey, Carlton.
Explorations in Parallel
Linear Genetic Programming.
Degree: 2011, Victoria University of Wellington
URL: http://hdl.handle.net/10063/2312
► Linear Genetic Programming (LGP) is a powerful problem-solving technique, but one with several significant weaknesses. LGP programs consist of a linear sequence of instructions, where…
(more)
▼ Linear
Genetic Programming (LGP) is a powerful problem-solving technique,
but one with several significant weaknesses. LGP programs consist
of a linear sequence of instructions, where each instruction may reuse
previously computed results. This structure makes LGP programs compact
and powerful, however it also introduces the problem of instruction
dependencies. The notion of instruction dependencies expresses the concept
that certain instructions rely on other instructions. Instruction dependencies
are often disrupted during crossover or mutation when one or
more instructions undergo modification. This disruption can cause disproportionately
large changes in program output resulting in non-viable
offspring and poor algorithm performance.
Motivated by biological inspiration and the issue of code disruption,
we develop a new form of LGP called Parallel LGP (PLGP). PLGP programs
consist of n lists of instructions. These lists are executed in parallel, and
the resulting vectors are summed to produce the overall program output.
PLGP limits the disruptive effects of crossover and mutation, which allows
PLGP to significantly outperform regular LGP.
We examine the PLGP architecture and determine that large PLGP programs
can be slow to converge. To improve the convergence time of large
PLGP programs we develop a new form of PLGP called Cooperative Coevolution
PLGP (CC PLGP). CC PLGP adapts the concept of cooperative
coevolution to the PLGP architecture. CC PLGP optimizes all program
components in parallel, allowing CC PLGP to converge significantly faster
than conventional PLGP.
We examine the CC PLGP architecture and determine that performance
Advisors/Committee Members: Zhang, Mengjie.
Subjects/Keywords: Genetic programming
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APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Downey, C. (2011). Explorations in Parallel
Linear Genetic Programming. (Masters Thesis). Victoria University of Wellington. Retrieved from http://hdl.handle.net/10063/2312
Chicago Manual of Style (16th Edition):
Downey, Carlton. “Explorations in Parallel
Linear Genetic Programming.” 2011. Masters Thesis, Victoria University of Wellington. Accessed January 18, 2021.
http://hdl.handle.net/10063/2312.
MLA Handbook (7th Edition):
Downey, Carlton. “Explorations in Parallel
Linear Genetic Programming.” 2011. Web. 18 Jan 2021.
Vancouver:
Downey C. Explorations in Parallel
Linear Genetic Programming. [Internet] [Masters thesis]. Victoria University of Wellington; 2011. [cited 2021 Jan 18].
Available from: http://hdl.handle.net/10063/2312.
Council of Science Editors:
Downey C. Explorations in Parallel
Linear Genetic Programming. [Masters Thesis]. Victoria University of Wellington; 2011. Available from: http://hdl.handle.net/10063/2312

Wake Forest University
9.
Cui, Jinku.
A Pareto based Genetic Algorithm for Virtual Local Area Network Optimization.
Degree: 2020, Wake Forest University
URL: http://hdl.handle.net/10339/96856
► Given a network policy, it is a challenge to create a configuration, which optimizes the security and functionality of networked computers. Virtual Local Access Network…
(more)
▼ Given a network policy, it is a challenge to create a configuration, which optimizes the security and functionality of networked computers. Virtual Local Access Network (VLAN) is a widely adopted technology for secure interconnections, dividing locally connected computers into various groups, where each group can implement a distinct access policy. VLANs provide the elasticity to manage groups and constrain access privileges. Our goal is to design a configuration that reduces the number of VLANs and satisfies the network policy.
Subjects/Keywords: Genetic Algorithm
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APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Cui, J. (2020). A Pareto based Genetic Algorithm for Virtual Local Area Network Optimization. (Thesis). Wake Forest University. Retrieved from http://hdl.handle.net/10339/96856
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Cui, Jinku. “A Pareto based Genetic Algorithm for Virtual Local Area Network Optimization.” 2020. Thesis, Wake Forest University. Accessed January 18, 2021.
http://hdl.handle.net/10339/96856.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Cui, Jinku. “A Pareto based Genetic Algorithm for Virtual Local Area Network Optimization.” 2020. Web. 18 Jan 2021.
Vancouver:
Cui J. A Pareto based Genetic Algorithm for Virtual Local Area Network Optimization. [Internet] [Thesis]. Wake Forest University; 2020. [cited 2021 Jan 18].
Available from: http://hdl.handle.net/10339/96856.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Cui J. A Pareto based Genetic Algorithm for Virtual Local Area Network Optimization. [Thesis]. Wake Forest University; 2020. Available from: http://hdl.handle.net/10339/96856
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Cape Town
10.
Ingram, Clair.
Perceptions of health-related quality of life among adults living with sickle cell disease in Cape Town, South Africa.
Degree: Image, Division of Human Genetics, 2018, University of Cape Town
URL: http://hdl.handle.net/11427/27841
► Sickle cell disease (SCD) is a chronic, heritable blood disorder with affected individuals suffering from debilitating health issues and requiring frequent hospitalisation. SCD is highly…
(more)
▼ Sickle cell disease (SCD) is a chronic, heritable blood disorder with affected individuals suffering from debilitating health issues and requiring frequent hospitalisation. SCD is highly prevalent in areas of the world where malaria is endemic and specifically in Sub-Saharan African (SSA) region from where a number of migrants flee to South Africa. This has resulted in increased numbers of SCD patients in the South African healthcare system requiring holistic treatment and care, and ultimately improvement of their health-related quality of life (HRQL). There is limited empirical information on issues related to HRQL in SCD in Africa, with none available on adults living with SCD in South Africa. For this reason, this study was carried out with the aim of qualitatively exploring the perceptions of HRQL in adult SCD patients at Groote Schuur Hospital in Cape Town. Participants were selected from Groote Schuur Hospital, a tertiary referral hospital in Cape Town, South Africa using a purposive sampling method. Participants were asked about how their condition affected physical and psychological functioning, effects of their health on relationships and social issues such as education and employment opportunities as well as discrimination. Perceptions of access to and satisfaction with healthcare, coping strategies and independent living skills were also explored. The data collected for this study were analysed using the framework approach and thematic content analyses methods. Results suggest that participants believed their functioning was affected by the constant and unpredictable nature of SCD clinical events, and this was seen to have social, financial and psychological implications. Environmental factors such as weather, activity and psychological state had significant impact on participants' health, with pain being a common complication of the condition often making coping with the condition difficult. Participants also experienced health-related discrimination and stigma in personal and social relationships and within the workplace often with negative emotional consequences. Both the positive and negative experiences with healthcare were also described. Participants found ways to cope with their condition but it appeared that SCD had more of a negative overall impact on various domains of HRQL for participants. Insights in to the impact of SCD on adult patients is important to allow for healthcare professionals to better understand patient needs and to implement more effective coping and self-management strategies appropriate for their patients. It also allows for
genetic counselling services to be better tailored to addressing the concerns and needs of patients to provide better educational and psychosocial support.
Advisors/Committee Members: Wonkam, Ambroise (advisor), Laing, Nakita (advisor), Mall, Sumaya (advisor).
Subjects/Keywords: Genetic Counselling
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❌
APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Ingram, C. (2018). Perceptions of health-related quality of life among adults living with sickle cell disease in Cape Town, South Africa. (Thesis). University of Cape Town. Retrieved from http://hdl.handle.net/11427/27841
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Ingram, Clair. “Perceptions of health-related quality of life among adults living with sickle cell disease in Cape Town, South Africa.” 2018. Thesis, University of Cape Town. Accessed January 18, 2021.
http://hdl.handle.net/11427/27841.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Ingram, Clair. “Perceptions of health-related quality of life among adults living with sickle cell disease in Cape Town, South Africa.” 2018. Web. 18 Jan 2021.
Vancouver:
Ingram C. Perceptions of health-related quality of life among adults living with sickle cell disease in Cape Town, South Africa. [Internet] [Thesis]. University of Cape Town; 2018. [cited 2021 Jan 18].
Available from: http://hdl.handle.net/11427/27841.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Ingram C. Perceptions of health-related quality of life among adults living with sickle cell disease in Cape Town, South Africa. [Thesis]. University of Cape Town; 2018. Available from: http://hdl.handle.net/11427/27841
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Cape Town
11.
Muchada, Irene Farisai.
The use of precision medicine on children with refractory epilepsy in South Africa: Caregivers’ experiences, perspectives and expectations.
Degree: MSc, Clinical Laboratory Sciences, 2019, University of Cape Town
URL: http://hdl.handle.net/11427/31676
► Background: Precision Medicine (PM) is a model whose goal is to tailor healthcare to meet the individual patient’s treatment and management needs. Precision Management of…
(more)
▼ Background: Precision Medicine (PM) is a model whose goal is to tailor healthcare to meet the individual patient’s treatment and management needs. Precision Management of Epilepsy in South African Children (PME) is an on-going study at the University of Cape Town (UCT) gathering preliminary insight into the potential of PM initiatives which include remote monitoring with a wearable device, a phone app and a
genetic and pharmacogenomics study in a South African setting. Feasibility and acceptability of new innovations is dependent on caregivers. This sub-study aims to better understand the caregivers’ experiences, perceptions and expectations of the PME initiatives. Methods: Ethical approval was obtained from UCT for this qualitative sub-study (HREC 775/2018). Twelve participants were purposively recruited from a cohort of 40 caregivers of children with refractory epilepsy recruited for the PME study attending Red Cross War Memorial Children’s Hospital in Cape Town, South Africa (SA). Face to face semi-structured interviews were conducted and themes were extracted using a thematic framework approach. Results: The knowledge of the aetiology of epilepsy was limited for most participants whose beliefs included medical, spiritual and traditional causes. Poor seizure control despite medication has resulted in an ongoing search for sources of cure and the right medication(s) and dose which impacts on adherence. The majority of participants showed limited understanding of what precision medicine is and did not fully understand the PME study. However, most felt that if properly implemented, these measures would be beneficial in caring for Children with Epilepsy (CWE). The mHealth devices introduced new feelings and challenges. The four themes which emerged were: 1) Cause of epilepsy: uncertainty and conflicting views; 2) Need for healing; 3) PME mHealth devices; 4) Feasibility of Feasibility of implementation of PME initiatives. Conclusions: The cause of epilepsy was generally misunderstood but caregivers felt that PM could help unlock the unknown cause of the refractory epileptic seizures. Most caregivers harbour insecurities about treatment efficacy and are in a constant search for optimal therapy. Adherence to medication is central to controlling seizures but was inconsistent for most participants for a number of reasons including health care access and uncertainty about the benefit gained. The mHealth devices, particularly the phone app, was perceived to be helpful especially in improving adherence but created an additional burden for many participants. This sub-study generated beneficial information for understanding caregivers’ current level of understanding of epilepsy and the PME initiatives and the potential benefits and challenges in future implementation of PM in SA.
Advisors/Committee Members: Fieggen, Karen (advisor), Laing, Nakita (advisor), Davies, Elin Haf (advisor).
Subjects/Keywords: Genetic Counselling
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❌
APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Muchada, I. F. (2019). The use of precision medicine on children with refractory epilepsy in South Africa: Caregivers’ experiences, perspectives and expectations. (Masters Thesis). University of Cape Town. Retrieved from http://hdl.handle.net/11427/31676
Chicago Manual of Style (16th Edition):
Muchada, Irene Farisai. “The use of precision medicine on children with refractory epilepsy in South Africa: Caregivers’ experiences, perspectives and expectations.” 2019. Masters Thesis, University of Cape Town. Accessed January 18, 2021.
http://hdl.handle.net/11427/31676.
MLA Handbook (7th Edition):
Muchada, Irene Farisai. “The use of precision medicine on children with refractory epilepsy in South Africa: Caregivers’ experiences, perspectives and expectations.” 2019. Web. 18 Jan 2021.
Vancouver:
Muchada IF. The use of precision medicine on children with refractory epilepsy in South Africa: Caregivers’ experiences, perspectives and expectations. [Internet] [Masters thesis]. University of Cape Town; 2019. [cited 2021 Jan 18].
Available from: http://hdl.handle.net/11427/31676.
Council of Science Editors:
Muchada IF. The use of precision medicine on children with refractory epilepsy in South Africa: Caregivers’ experiences, perspectives and expectations. [Masters Thesis]. University of Cape Town; 2019. Available from: http://hdl.handle.net/11427/31676

University of Cape Town
12.
du Toit, Maxine.
The role of a genetic counsellor in a support group for Huntington disease.
Degree: MSc, Clinical Laboratory Sciences, 2019, University of Cape Town
URL: http://hdl.handle.net/11427/31543
► Genetic counselling students are encouraged to become involved with support groups for genetic conditions. However, their roles within these groups are not well defined and…
(more)
▼ Genetic counselling students are encouraged to become involved with support groups for
genetic conditions. However, their roles within these groups are not well defined and poorly understood and ethical concerns have been raised regarding the appropriateness of such involvement. A limited number of international studies have examined the role of a
genetic counsellor in a support group. These studies report broadly on the matter but lack the personal response that qualitative data produces. South African literature is even more limited and no studies (both locally and internationally) have attempted to describe the role of a
genetic counsellor in a support group for Huntington disease. This study examines the role of a
genetic counsellor in a Huntington Disease support group, specifically the Huntington’s Association of South Africa (HASA). A qualitative research approach was used to interview 17 people who have been involved with HASA in the past seven years. In-person and telephonic interviews were conducted with five
genetic counsellors and one psychologist. Two separate focus groups were conducted with a total of 11 support group members and one
genetic counsellor (who was also interviewed in-person). The interviews and focus groups were audio recorded and transcribed by a combination of an online software program named Sonix Transcription and manual transcription by the researcher herself. Thematic analysis was done and the results were grouped according to the following five themes that emerged from the data: 1) Is there a role?, 2) Information provider, 3) Emotional support, 4) Practical helper, and 5) Community member. It was found that there is a role for a
genetic counsellor in a HASA support group and that the relationship that is formed though such involvement can be mutually beneficial to both the support group members and the
genetic counsellor. The
genetic counsellor’s role was found to be wide and included specialist and practical roles, as indicated by above mentioned themes two to five. These findings cannot be extrapolated to apply to all support groups due to the unique characteristics and function of different support groups. This was evident in this case as the two branches in SA (Western Cape and Gauteng) seem to function very differently. The research can, however, be used as guideline for involvement with other support groups. This 9 study’s findings made a unique contribution in that it documented in detail the
genetic counsellor’s involvement in support groups. The study found that all the participants agreed that HASA should have access to a
genetic counsellor, thus it is recommended that future studies should explore the role of a
genetic counsellor in support groups for other
genetic conditions, as those groups could also find it beneficial.
Advisors/Committee Members: Wessels, Tina-Marié (advisor), Greenberg, Jacquie (advisor).
Subjects/Keywords: Genetic Counselling
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❌
APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
du Toit, M. (2019). The role of a genetic counsellor in a support group for Huntington disease. (Masters Thesis). University of Cape Town. Retrieved from http://hdl.handle.net/11427/31543
Chicago Manual of Style (16th Edition):
du Toit, Maxine. “The role of a genetic counsellor in a support group for Huntington disease.” 2019. Masters Thesis, University of Cape Town. Accessed January 18, 2021.
http://hdl.handle.net/11427/31543.
MLA Handbook (7th Edition):
du Toit, Maxine. “The role of a genetic counsellor in a support group for Huntington disease.” 2019. Web. 18 Jan 2021.
Vancouver:
du Toit M. The role of a genetic counsellor in a support group for Huntington disease. [Internet] [Masters thesis]. University of Cape Town; 2019. [cited 2021 Jan 18].
Available from: http://hdl.handle.net/11427/31543.
Council of Science Editors:
du Toit M. The role of a genetic counsellor in a support group for Huntington disease. [Masters Thesis]. University of Cape Town; 2019. Available from: http://hdl.handle.net/11427/31543

University of Cape Town
13.
Al-Kharusi, Khalsa.
The experiences of couples undergoing Preimplantation Genetic Diagnosis (PGD) at the Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital (SQUH) in Oman.
Degree: Image, Division of Human Genetics, 2016, University of Cape Town
URL: http://hdl.handle.net/11427/23776
► Preimplantation genetic diagnosis (PGD) is an alternative reproductive technology integrated with in-vitro fertilisation (IVF). It is a well-established technique offering reproductive options for families at…
(more)
▼ Preimplantation
genetic diagnosis (PGD) is an alternative reproductive technology integrated with in-vitro fertilisation (IVF). It is a well-established technique offering reproductive options for families at a high risk of transmitting a
genetic disorder, allowing them to avoid a termination of pregnancy (TOP). Consanguineous unions are common and encouraged in many Arab communities. This can lead to an increased risk of one or more autosomal recessive disorders that may occur within the family. Traditional prenatal testing involves testing fetal cells with the option of TOP of an affected fetus. In Arab communities where TOP is restricted under Muslim law, such testing is not acceptable. For these couples and their family members, PGD is a feasible option as the fetus is diagnosed before implantation and allows for only healthy embryos to be implanted. However, undergoing PGD is relatively new in the Arabic Muslim countries and Omani patients have only recently had access to the service. This study utilised a phenomenological approach to explore the experience of Omani families who had selected to undergo PGD as a means of reducing the risk of having a child affected with a
genetic disorder. Fourteen participants from eight families who underwent PGD were interviewed. Data collected were analysed using thematic analysis. The research identified five main themes; Desire for a Healthy Child; Anxiety "Taraqub"; Unforeseen; Secrecy; Me and My Partner. The PGD experience was reported as physically and emotionally distressing. Some participants felt attached to their embryos regardless of health status, while the majority did not anticipate the loss of intimacy, autonomy and control they experienced, particularly related to the insemination process. The social and religious background of participants played a significant role in the participant's perception of PGD, which has both practical and psychosocial implications. The findings of the research have provided insight into the PGD experiences of Omani families and can be used to improve the services that are currently available to these families.
Advisors/Committee Members: Wessels, Tina-Marié (advisor), Bruwer, Zandré (advisor).
Subjects/Keywords: Genetic Counselling
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❌
APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Al-Kharusi, K. (2016). The experiences of couples undergoing Preimplantation Genetic Diagnosis (PGD) at the Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital (SQUH) in Oman. (Thesis). University of Cape Town. Retrieved from http://hdl.handle.net/11427/23776
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Al-Kharusi, Khalsa. “The experiences of couples undergoing Preimplantation Genetic Diagnosis (PGD) at the Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital (SQUH) in Oman.” 2016. Thesis, University of Cape Town. Accessed January 18, 2021.
http://hdl.handle.net/11427/23776.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Al-Kharusi, Khalsa. “The experiences of couples undergoing Preimplantation Genetic Diagnosis (PGD) at the Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital (SQUH) in Oman.” 2016. Web. 18 Jan 2021.
Vancouver:
Al-Kharusi K. The experiences of couples undergoing Preimplantation Genetic Diagnosis (PGD) at the Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital (SQUH) in Oman. [Internet] [Thesis]. University of Cape Town; 2016. [cited 2021 Jan 18].
Available from: http://hdl.handle.net/11427/23776.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Al-Kharusi K. The experiences of couples undergoing Preimplantation Genetic Diagnosis (PGD) at the Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital (SQUH) in Oman. [Thesis]. University of Cape Town; 2016. Available from: http://hdl.handle.net/11427/23776
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Cape Town
14.
Shaw, Tarryn.
Women's experiences of receiving a child's fetal alcohol spectrum disorder diagnosis: a Western Cape study.
Degree: Image, Division of Human Genetics, 2015, University of Cape Town
URL: http://hdl.handle.net/11427/16922
► There are a range of conditions, collectively known as fetal alcohol spectrum disorders (FASD), which result from the exposure of a developing fetus to alcohol.…
(more)
▼ There are a range of conditions, collectively known as fetal alcohol spectrum disorders (FASD), which result from the exposure of a developing fetus to alcohol. South Africa has among the highest rates of FASD reported in the world, especially among the impoverished communities in the Western Cape region, with rates of up to 208.8 per 1000 first grade learners being reported. The need for screening, surveillance and immediate prevention work has been stressed. Limited research has been conducted on understanding the experiences of parents who raise children with FASD. This is invaluable in understanding what needs, support, services, education and funding is required. The Foundation for Alcohol Related Research (FARR) recently conducted a FASD epidemiological study to assess the burden of FASD and guide the implementation of prevention work in high risk areas. Grade one learners from 14 West Coast schools were diagnosed, and their mothers received a diagnostic feedback and counselling session. The aim of the rese arch project was to explore the experiences of women who have received an FASD diagnosis for their child and to understand their comprehension, feelings and needs. Thirteen participants were recruited through FARR and semi-structured interviews were conducted at Vredenburg Private Hospital in the West Coast region of South Africa. Additionally, three community workers were interviewed. The data was analysed using a thematic content analysis approach and five themes were identified. The research identified that the social context in which these women live has caused them to fall victim to their circumstances, contributing to their drinking habits. Their experiences of living with an FASD child are difficult and most women feel guilty while others are in denial. Although these women know that alcohol was the cause of their child's problems, there were a number of misconceptions such as the amount of alcohol to cause harm, which parent was responsible and that drugs are safer than alcohol use during pregnancy. Furthermore, the mothers found it helpful to know the diagnosis. This helped them understand their child's problems. They felt strongly that they will abstain from alcohol use during pregnancy and that they will encourage other women to do the same. There was a need for further education and context-sensitive intervention work. This research will impact strategies to support families, help to improve services and guide prevention work in this area.
Advisors/Committee Members: Wessels, Tina (advisor), Olivier, Leana (advisor), Lombard, Chanelle (advisor).
Subjects/Keywords: Genetic Counselling
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❌
APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Shaw, T. (2015). Women's experiences of receiving a child's fetal alcohol spectrum disorder diagnosis: a Western Cape study. (Thesis). University of Cape Town. Retrieved from http://hdl.handle.net/11427/16922
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Shaw, Tarryn. “Women's experiences of receiving a child's fetal alcohol spectrum disorder diagnosis: a Western Cape study.” 2015. Thesis, University of Cape Town. Accessed January 18, 2021.
http://hdl.handle.net/11427/16922.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Shaw, Tarryn. “Women's experiences of receiving a child's fetal alcohol spectrum disorder diagnosis: a Western Cape study.” 2015. Web. 18 Jan 2021.
Vancouver:
Shaw T. Women's experiences of receiving a child's fetal alcohol spectrum disorder diagnosis: a Western Cape study. [Internet] [Thesis]. University of Cape Town; 2015. [cited 2021 Jan 18].
Available from: http://hdl.handle.net/11427/16922.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Shaw T. Women's experiences of receiving a child's fetal alcohol spectrum disorder diagnosis: a Western Cape study. [Thesis]. University of Cape Town; 2015. Available from: http://hdl.handle.net/11427/16922
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
15.
Guay, Catherine L., 1979-.
High-throughput tools for functional genomics.
Degree: PhD, Computational and Integrative Biology, 2018, Rutgers University
URL: https://rucore.libraries.rutgers.edu/rutgers-lib/57076/
► Genetic information is stored in DNA sequences, referred to as the genome. Decoding the meaning of these sequences is a critical challenge in biology. The…
(more)
▼ Genetic information is stored in DNA sequences, referred to as the genome. Decoding the meaning of these sequences is a critical challenge in biology. The genome contains functional components that modulate information in the genome into cell type specific functions. Of these components, Cis-regulatory modules (CRMs) integrate transcription factor inputs to causally affect gene expression. The genomic locations and sequences of CRMs are useful for resolving interactions within gene regulatory networks, and are therefore useful to address fundamental questions pertaining to development, evolution, cancer, and genetic disease. My work addressed major methodological limitations in CRM analysis. Previously, there was no functional method to identify CRMs at genome-scale. Thus, I developed a Genome-scale Reporter Assay Method for CRMs, or GRAMc, that utilizes random 25bp DNA barcodes (N25s) as reporters to quantitatively and reproducibly identify CRMs across an entire genome. The method was applied in cultured human liver cells and in sea urchin embryos. Due to the limited delivery rate of reporter constructs into embryos, it is often advantageous to test GRAMc libraries containing long (>1kb) genomic inserts. Previously, there was no efficient way to characterize genome-scale reporter libraries containing long inserts. To overcome this limitation, I developed a bi-directional mate-pair library approach to characterize long insert containing libraries of genome-scale magnitude. Although genome-scale identification of CRMs is critical to increase cis-regulatory analysis, in embryos it is also necessary to characterize the spatial activity of CRMs. Available methods to identify the spatial activity of CRMs rely on image analysis. Due to the limited number of optically distinct reporter genes, image-based methods are limited to testing only a few CRMs at a time. To address this challenge, I developed a method for Multiplex and Mosaic Observation of Spatial information encoded In CRMs, or MMOSAIC, that increases throughput of spatial cis-regulatory analysis in embryos by several orders of magnitude over traditional imaging based approaches. Together, these tools for cis-regulatory analysis overcome several major limitations for the study of functional genomics
Advisors/Committee Members: Nam, Jongmin (chair).
Subjects/Keywords: Genetic regulation
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❌
APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Guay, Catherine L., 1. (2018). High-throughput tools for functional genomics. (Doctoral Dissertation). Rutgers University. Retrieved from https://rucore.libraries.rutgers.edu/rutgers-lib/57076/
Chicago Manual of Style (16th Edition):
Guay, Catherine L., 1979-. “High-throughput tools for functional genomics.” 2018. Doctoral Dissertation, Rutgers University. Accessed January 18, 2021.
https://rucore.libraries.rutgers.edu/rutgers-lib/57076/.
MLA Handbook (7th Edition):
Guay, Catherine L., 1979-. “High-throughput tools for functional genomics.” 2018. Web. 18 Jan 2021.
Vancouver:
Guay, Catherine L. 1. High-throughput tools for functional genomics. [Internet] [Doctoral dissertation]. Rutgers University; 2018. [cited 2021 Jan 18].
Available from: https://rucore.libraries.rutgers.edu/rutgers-lib/57076/.
Council of Science Editors:
Guay, Catherine L. 1. High-throughput tools for functional genomics. [Doctoral Dissertation]. Rutgers University; 2018. Available from: https://rucore.libraries.rutgers.edu/rutgers-lib/57076/

University of Cape Town
16.
Malope, Malebo Felicia.
Exploring the decision making process of women offered termination of pregnancy for serious congenital abnormality.
Degree: Image, Division of Human Genetics, 2018, University of Cape Town
URL: http://hdl.handle.net/11427/27900
► Background: A weekly pregnancy counselling clinic is held in conjunction with foetal medicine experts at Groote Schuur Hospital for women with pregnancies complicated by foetal…
(more)
▼ Background: A weekly pregnancy counselling clinic is held in conjunction with foetal medicine experts at Groote Schuur Hospital for women with pregnancies complicated by foetal anomalies. In cases with poor prognoses, termination of pregnancy (TOP) may be offered. The women receive
genetic counselling where the ultrasound findings, invasive testing and TOP options are discussed. Decision-making is the focus of these sessions. The experiences and decision-making processes of the women in this clinic are poorly understood, therefore this project aims to explore these women's experiences and what factors influence their decision-making regarding TOP. Methods: Qualitative research, drawing on principles of phenomenology was used as the study design. The sample for this study are women who had a prenatal diagnosis of a serious congenital abnormality and were offered TOP. The women were identified using the Division of Human Genetics pregnancy counselling database at the University of Cape Town in South Africa. Semistructured face-to-face interviews with open-ended questions were used to collect the data and close-ended questions were used to obtain the demographic data. The interviews were recorded and transcribed verbatim. The data were analysed using a thematic data analysis approach. A total of 12 women were interviewed. Results: Five themes were identified in this study. These include "Health care services", "Home", "Being a woman", "Finding meaning", and "The aftermath". The healthcare services impacted the manner in which the women made sense of the ultrasound findings. Support (or lack of) from family and the community impacted on their decision-making. Stigma attached to having a child with a disability and/or stigma against TOP and partner relationships played a role. The women questioned their role as a woman and obligations of child-bearing. Finding meaning for the event was important and this process continued until after the delivery or after the child was born. Following the event having a burial and giving away the child's clothes were found to play a significant role in their adjustment. Discussion and Conclusion: The decision-making process was multifaceted and unique to each woman. They consulted their families, partners and community but in the end they made the final decision. The women considered a multitude of factors but it seems that there may be one deciding factor. This in depth exploration of the women's experiences has provided valuable insight into the decision-making process, which can be used to improve the services offered to patients.
Advisors/Committee Members: Wessels, Tina-Marié (advisor), Fieggen, Karen (advisor), Stewart, Chantal (advisor).
Subjects/Keywords: Genetic Counselling
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❌
APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Malope, . M. F. (2018). Exploring the decision making process of women offered termination of pregnancy for serious congenital abnormality. (Thesis). University of Cape Town. Retrieved from http://hdl.handle.net/11427/27900
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Malope, Malebo Felicia. “Exploring the decision making process of women offered termination of pregnancy for serious congenital abnormality.” 2018. Thesis, University of Cape Town. Accessed January 18, 2021.
http://hdl.handle.net/11427/27900.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Malope, Malebo Felicia. “Exploring the decision making process of women offered termination of pregnancy for serious congenital abnormality.” 2018. Web. 18 Jan 2021.
Vancouver:
Malope MF. Exploring the decision making process of women offered termination of pregnancy for serious congenital abnormality. [Internet] [Thesis]. University of Cape Town; 2018. [cited 2021 Jan 18].
Available from: http://hdl.handle.net/11427/27900.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Malope MF. Exploring the decision making process of women offered termination of pregnancy for serious congenital abnormality. [Thesis]. University of Cape Town; 2018. Available from: http://hdl.handle.net/11427/27900
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Cape Town
17.
Verkijk, Nakita.
An investigation into the reasons for non-uptake of carrier testing in a family affected by alpha thalassaemia X-linked mental retardation (ATR-X) syndrome.
Degree: Image, Medicine, 2011, University of Cape Town
URL: http://hdl.handle.net/11427/11481
► Alpha thalassaemia X-linked mental retardation (ATR-X) syndrome is a rare, X-linked intellectual disability syndrome with an estimated prevalence in the range of 1-9/1 000 000.…
(more)
▼ Alpha thalassaemia X-linked mental retardation (ATR-X) syndrome is a rare, X-linked intellectual disability syndrome with an estimated prevalence in the range of 1-9/1 000 000. The prevalence in South Africa (SA) is unknown; however in Cape Town there is one extended family with seven males who were clinically, and later molecularly, diagnosed with this condition. Due to the identification of the mutation in this family, carrier and prenatal testing is available. However, since the announcement in 2007 that testing is available, no individuals have presented themselves for their carrier status to be determined. The aim of this study was to investigate the reasons why females in this family have not presented for carrier testing.
Advisors/Committee Members: Futter, Merle (advisor).
Subjects/Keywords: Genetic Counselling
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❌
APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Verkijk, N. (2011). An investigation into the reasons for non-uptake of carrier testing in a family affected by alpha thalassaemia X-linked mental retardation (ATR-X) syndrome. (Thesis). University of Cape Town. Retrieved from http://hdl.handle.net/11427/11481
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Verkijk, Nakita. “An investigation into the reasons for non-uptake of carrier testing in a family affected by alpha thalassaemia X-linked mental retardation (ATR-X) syndrome.” 2011. Thesis, University of Cape Town. Accessed January 18, 2021.
http://hdl.handle.net/11427/11481.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Verkijk, Nakita. “An investigation into the reasons for non-uptake of carrier testing in a family affected by alpha thalassaemia X-linked mental retardation (ATR-X) syndrome.” 2011. Web. 18 Jan 2021.
Vancouver:
Verkijk N. An investigation into the reasons for non-uptake of carrier testing in a family affected by alpha thalassaemia X-linked mental retardation (ATR-X) syndrome. [Internet] [Thesis]. University of Cape Town; 2011. [cited 2021 Jan 18].
Available from: http://hdl.handle.net/11427/11481.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Verkijk N. An investigation into the reasons for non-uptake of carrier testing in a family affected by alpha thalassaemia X-linked mental retardation (ATR-X) syndrome. [Thesis]. University of Cape Town; 2011. Available from: http://hdl.handle.net/11427/11481
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Brandeis University
18.
Liberman, Stacey.
To Be a Clinical or Non-Clinical Genetic Counselor, That is the Question.
Degree: 2016, Brandeis University
URL: http://hdl.handle.net/10192/32087
► Many genetic counselors are leaving or considering leaving their clinical positions for non-clinical positions. This comes at a time when there is an increasing need…
(more)
▼ Many genetic counselors are leaving or considering leaving their clinical positions for non-clinical positions. This comes at a time when there is an increasing need for clinical genetic counselors. A serious concern facing the genetic counseling profession is ensuring that there will be an adequate workforce both in supply and skills needed for existing and emerging roles. The purpose of this study was to determine what types of positions genetic counselors plan to take and what impacts their decisions. Two-hundred seventy-seven current genetic counseling students and 440 individuals who recently graduated from an accredited US or Canadian genetic counseling master’s degree program between 2010 and 2015 completed our anonymous online survey. Overall, both groups consider working in clinical and non-clinical roles. Specifically, 72.6% of graduates (N=408) currently hold or previously held a clinical position, and 95.4% of students (N=263) indicated they will likely pursue a clinical position during their career. Reasons cited for considering or pursuing clinical positions included wanting to provide direct patient care, desiring the job responsibilities and characteristics and seeing a clinical position as a necessary first step to gain experience before moving to a non-clinical position. About 31% of graduates (N=411) reported that they currently work or previously worked in a non-clinical setting. In addition, 52.4% of graduates who have not yet held a non-clinical position (N=227) and 66% of students (N=265) believe they will likely work in a non-clinical setting during their career. The higher salary, flexibility, opportunities for new challenges, professional growth and respect associated with non-clinical positions were the primary reasons for considering or pursuing these roles. It is important for the genetic counseling profession to develop strategic plans to lessen the number of genetic counselors vacating clinical positions and to increase the supply of genetic counselors to meet the increasing demand for both clinical and non-clinical counselors.
Subjects/Keywords: genetic counseling roles; clinical genetic counselors; non-clinical genetic counselors; genetic counseling students; genetic counseling workforce; industry; genetic counselor demand
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❌
APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Liberman, S. (2016). To Be a Clinical or Non-Clinical Genetic Counselor, That is the Question. (Thesis). Brandeis University. Retrieved from http://hdl.handle.net/10192/32087
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Liberman, Stacey. “To Be a Clinical or Non-Clinical Genetic Counselor, That is the Question.” 2016. Thesis, Brandeis University. Accessed January 18, 2021.
http://hdl.handle.net/10192/32087.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Liberman, Stacey. “To Be a Clinical or Non-Clinical Genetic Counselor, That is the Question.” 2016. Web. 18 Jan 2021.
Vancouver:
Liberman S. To Be a Clinical or Non-Clinical Genetic Counselor, That is the Question. [Internet] [Thesis]. Brandeis University; 2016. [cited 2021 Jan 18].
Available from: http://hdl.handle.net/10192/32087.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Liberman S. To Be a Clinical or Non-Clinical Genetic Counselor, That is the Question. [Thesis]. Brandeis University; 2016. Available from: http://hdl.handle.net/10192/32087
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

NSYSU
19.
Chung, Chia-ying.
Genetic diversity, genetic divergence and phylogeographical patterns in Calocedrus based on microsatellites.
Degree: Master, Biological Sciences, 2015, NSYSU
URL: http://etd.lib.nsysu.edu.tw/ETD-db/ETD-search/view_etd?URN=etd-0724115-101740
► The genus Calocedrus is Eastern Asian â North American disjunctive distribution. Calocedrus formosana (Florin) Florin is restricted to Taiwan, Calocedrus macrolepis Kurz, and C. rupestris…
(more)
▼ The genus Calocedrus is Eastern Asian â North American disjunctive distribution. Calocedrus formosana (Florin) Florin is restricted to Taiwan, Calocedrus macrolepis Kurz, and C. rupestris Aver., T.H. Nguyên & K.L. Phan are scattered throughout southwestern of China to northern of Indochina and Hainan Island, and Calocedrus decurrens Florin is native to western North America. According to fossil records, Calocedrus had been widespread in the Northern Hemisphere. In this study, we examined phylogeographical patterns,
genetic diversity and
genetic divergence in this genus based on 20 microsatellite markers. These 20 polymorphic microsatellite loci were used to evaluate
genetic diversity among 627 samples from 27 populations of four taxa in Calocedrus, including 10 populations from C. formosana 265 individuals, 14 populations from C. macrolepis 314 individuals, 2 populations from C. rupestris 33 individuals, and 15 individuals from C. decurrens.
Genetic diversity indices for 4 species based on 20 polymorphic loci, including the number of alleles (Na), the number of effective alleles (Ne) and the observed and expected heterozygosity (Ho and He), were estimated. The 4 species
genetic diversity indices mean value range are: Na: from 3.65 to 8.05, Ne: from 2.04 to 2.66, Ho: from 0.14 to 0.26, He: from 0.48 to 0.54. In 10 C. formosana populations,
genetic diversity indices mean value range are: Na: from 3.65 to 8.05, Na: from 2.35 to 4.4, Ne: from 1.76 to2.17, Ho: from 0.13 to 0.19, He: from 0.36 to 0.49. In 14 C. macrolepis populations,
genetic diversity indices mean value range are: Na: from 4.25 to 2.45, Ne: from 1.83 to 2.39, Ho: from 0.18 to 0.35, He: from 0.36 to 0.53. AMOVA showed 78.12%
genetic variation accumulated within population and high levels of
genetic differentiation (FST =0.22). In C. formosana, C. macrolepis and C. rupestris AMOVA showed 61% and 48.72%
genetic variation accumulated in among individuals within populations and with individuals and low levele of
genetic differentiation (FSTï¼0.07&0.094). The results of PCoA showed high
genetic divergence among species except between C. macrolepis and C. rupestris, also significant
genetic divergence among populations in C. formosana and C. macrolepis. In STRUCTURE analysis at Kï¼2 and Kï¼3 significant
genetic clustering for four Calocedrus species might caused by Neogene, Paleogene and Quaternary climatic oscillations. In IMa result, the ancestral effective population size (21 million) is greater than C. formosana and C. macrolepis (385 and 7048). This result indicated these two species retreated to refugia caused by Quaternary climatic oscillations. The migration rate from C. formosana to C. macrolepis (M12)was 1.08Ã10-3and migration rate from C. macrolepis to C. formosana (M21) was 2.55Ã10-5. This result indicated species migration path from island to mainland at Eastern Asian. In STRUCTURE result no significant geographical barrier caused by gene flow in C. formosana populations. In C. macrolepis populations, the population geographical differentiation and…
Advisors/Committee Members: Kuo-Hsiang Hung (chair), Ho-Yih Liu (chair), Yu-Chung Chiang (committee member).
Subjects/Keywords: genetic diversity; genetic differentiation; microsatellite; phylogeographical; Calocedrus
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APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Chung, C. (2015). Genetic diversity, genetic divergence and phylogeographical patterns in Calocedrus based on microsatellites. (Thesis). NSYSU. Retrieved from http://etd.lib.nsysu.edu.tw/ETD-db/ETD-search/view_etd?URN=etd-0724115-101740
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Chung, Chia-ying. “Genetic diversity, genetic divergence and phylogeographical patterns in Calocedrus based on microsatellites.” 2015. Thesis, NSYSU. Accessed January 18, 2021.
http://etd.lib.nsysu.edu.tw/ETD-db/ETD-search/view_etd?URN=etd-0724115-101740.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Chung, Chia-ying. “Genetic diversity, genetic divergence and phylogeographical patterns in Calocedrus based on microsatellites.” 2015. Web. 18 Jan 2021.
Vancouver:
Chung C. Genetic diversity, genetic divergence and phylogeographical patterns in Calocedrus based on microsatellites. [Internet] [Thesis]. NSYSU; 2015. [cited 2021 Jan 18].
Available from: http://etd.lib.nsysu.edu.tw/ETD-db/ETD-search/view_etd?URN=etd-0724115-101740.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Chung C. Genetic diversity, genetic divergence and phylogeographical patterns in Calocedrus based on microsatellites. [Thesis]. NSYSU; 2015. Available from: http://etd.lib.nsysu.edu.tw/ETD-db/ETD-search/view_etd?URN=etd-0724115-101740
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Ryerson University
20.
Jirasek, Lubomir.
A genetic algorithm based partition generation and optimization method for finite element problems.
Degree: 2009, Ryerson University
URL: https://digital.library.ryerson.ca/islandora/object/RULA%3A1387
► A two-step partitioning algorithm for FE meshes is proposed in this work for the purposes of time savings. A direct method based on the concept…
(more)
▼ A two-step partitioning algorithm for FE meshes is proposed in this work for the purposes of time savings. A direct method based on the concept of 'separateness' was applied first, followed by a partition optimization process that used a
Genetic Algorithm (GA). A total of 9 applications were evaluated to demonstrate the durability, versatility, and effectiveness of this partitioning algorithm with respect to interface node count and subdomain load balance. Beyond this wingbox optimization problem was performed on a single processor using a GA to demonstrate the possible time savings of the method. With a 30% decrease in compute time witnessed, it can be said with confidence that the propose partitioning algorithm was a success.
Advisors/Committee Members: Behdinan, Kamran (Thesis advisor), Ryerson University (Degree grantor).
Subjects/Keywords: Genetic algorithms; Genetic programming (Computer science)
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❌
APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Jirasek, L. (2009). A genetic algorithm based partition generation and optimization method for finite element problems. (Thesis). Ryerson University. Retrieved from https://digital.library.ryerson.ca/islandora/object/RULA%3A1387
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Jirasek, Lubomir. “A genetic algorithm based partition generation and optimization method for finite element problems.” 2009. Thesis, Ryerson University. Accessed January 18, 2021.
https://digital.library.ryerson.ca/islandora/object/RULA%3A1387.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Jirasek, Lubomir. “A genetic algorithm based partition generation and optimization method for finite element problems.” 2009. Web. 18 Jan 2021.
Vancouver:
Jirasek L. A genetic algorithm based partition generation and optimization method for finite element problems. [Internet] [Thesis]. Ryerson University; 2009. [cited 2021 Jan 18].
Available from: https://digital.library.ryerson.ca/islandora/object/RULA%3A1387.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Jirasek L. A genetic algorithm based partition generation and optimization method for finite element problems. [Thesis]. Ryerson University; 2009. Available from: https://digital.library.ryerson.ca/islandora/object/RULA%3A1387
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Ryerson University
21.
Gebremariam, Michael.
Implementation of integrated design space exploration of scheduling, allocation and binding in high level synthesis using multi structure genetic algorithm.
Degree: 2010, Ryerson University
URL: https://digital.library.ryerson.ca/islandora/object/RULA%3A6075
► The objective of this project is to develop a software tool which assists in comparison of a work known as "M-GenESys: Multi Structure Genetic Algorithm…
(more)
▼ The objective of this project is to develop a software tool which assists in comparison of a work known as "M-GenESys: Multi Structure Genetic Algorithm based Design Space Exploration System for Integrated Scheduling, Allocation and Binding in High Level Synthesis" with another well established GA approach known as "A Generic Algorithm for the Design Space Exploration of Data paths During High-Level Synthesis".
Two sets of software are developed based on both approaches using Microsoft Visual 2005 C# language. The C# language is an object-oriented language that is aimed at enabling programmers to quickly develop a wide range of applications on the Microsoft .NET platform. The goal of C# and the .NET platform is to shorten development time by freeing the developer from worrying about several low level plumbing issues such as memory equipment, type safety issues, building low level libraries, array bound checking, etc., thus allowing developers to actually spend their time and energy working on the application and business logic.
Subjects/Keywords: Genetic programming (Computer science); Genetic algorithms
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❌
APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Gebremariam, M. (2010). Implementation of integrated design space exploration of scheduling, allocation and binding in high level synthesis using multi structure genetic algorithm. (Thesis). Ryerson University. Retrieved from https://digital.library.ryerson.ca/islandora/object/RULA%3A6075
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Gebremariam, Michael. “Implementation of integrated design space exploration of scheduling, allocation and binding in high level synthesis using multi structure genetic algorithm.” 2010. Thesis, Ryerson University. Accessed January 18, 2021.
https://digital.library.ryerson.ca/islandora/object/RULA%3A6075.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Gebremariam, Michael. “Implementation of integrated design space exploration of scheduling, allocation and binding in high level synthesis using multi structure genetic algorithm.” 2010. Web. 18 Jan 2021.
Vancouver:
Gebremariam M. Implementation of integrated design space exploration of scheduling, allocation and binding in high level synthesis using multi structure genetic algorithm. [Internet] [Thesis]. Ryerson University; 2010. [cited 2021 Jan 18].
Available from: https://digital.library.ryerson.ca/islandora/object/RULA%3A6075.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Gebremariam M. Implementation of integrated design space exploration of scheduling, allocation and binding in high level synthesis using multi structure genetic algorithm. [Thesis]. Ryerson University; 2010. Available from: https://digital.library.ryerson.ca/islandora/object/RULA%3A6075
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of South Carolina
22.
Tallas, Analyssa R.
Quality of Life of Children With Spinal Muscular Atrophy: Parents’ Perspectives in Light of New Treatments.
Degree: MSin Genetic Counseling, Genetic Counseling, 2020, University of South Carolina
URL: https://scholarcommons.sc.edu/etd/5747
► Purpose: To directly compare parents’ perspectives of the quality of life of their children with Spinal Muscular Atrophy (SMA) who received supportive care, nusinersen…
(more)
▼ Purpose: To directly compare parents’ perspectives of the quality of life of their children with Spinal Muscular Atrophy (SMA) who received supportive care, nusinersen (Spinraza®), onasemnogene abeparvovec-xioi (Zolgensma®), or both nusinersen and onasemnogene abeparvovec-xioi. Methods: The parents of children with SMA were recruited to complete anonymous online surveys. All surveys included qualitative questions about quality of life. Surveys regarding children in the 1-12-month and 13-24-month age groups included the Pediatric Quality of Life Infant Scales assessment. Surveys regarding children in the 2-4-year age group included the Pediatric Quality of Life Inventory 4.0 Generic Core Scales and the Pediatric Quality of Life 3.0 Neuromuscular Module assessments. The >4-year age group did not include a quantitative quality of life assessment. Results: The 1-12-month age group average physical quality of life summary score was increased for children treated with a combination of both nusinersen and onasemnogene abeparvovec-xioi and also those treated with onasemnogene abeparvovec-xioi only. The 1-12-month- age group average psychosocial quality of life summary score was increased for children treated with nusinersen only. Physical and psychosocial quality of life data regarding the 13-24-month age group was not statistically significant. All surveys regarding the 2-4-year age group and one survey from the >4-year age group were excluded to eliminate the possibility of identifying participants. Conclusion: It was not possible to identify and associate a single treatment with conferring a statistically higher quality of life; however, the quantitative and qualitative responses collected allowed for an inference that parents believe their children with SMA have a greater quality of life when provided treatment over having only supportive care. Before the FDA approval of the available treatments, healthcare providers who shared the diagnosis of SMA with parents had to also share that there was no known effective treatment. However, today when families hear the diagnosis of SMA, they can be hopeful for their child and family’s future because of the treatments available and the proven increase in quality of life with these treatments. Knowing how quality of life perspectives differ based on the type of treatment received can help in the education of parents of children with SMA.
Advisors/Committee Members: Debera Zvejnieks.
Subjects/Keywords: Genetic Phenomena; Genetic Structures; Medical Sciences
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APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Tallas, A. R. (2020). Quality of Life of Children With Spinal Muscular Atrophy: Parents’ Perspectives in Light of New Treatments. (Masters Thesis). University of South Carolina. Retrieved from https://scholarcommons.sc.edu/etd/5747
Chicago Manual of Style (16th Edition):
Tallas, Analyssa R. “Quality of Life of Children With Spinal Muscular Atrophy: Parents’ Perspectives in Light of New Treatments.” 2020. Masters Thesis, University of South Carolina. Accessed January 18, 2021.
https://scholarcommons.sc.edu/etd/5747.
MLA Handbook (7th Edition):
Tallas, Analyssa R. “Quality of Life of Children With Spinal Muscular Atrophy: Parents’ Perspectives in Light of New Treatments.” 2020. Web. 18 Jan 2021.
Vancouver:
Tallas AR. Quality of Life of Children With Spinal Muscular Atrophy: Parents’ Perspectives in Light of New Treatments. [Internet] [Masters thesis]. University of South Carolina; 2020. [cited 2021 Jan 18].
Available from: https://scholarcommons.sc.edu/etd/5747.
Council of Science Editors:
Tallas AR. Quality of Life of Children With Spinal Muscular Atrophy: Parents’ Perspectives in Light of New Treatments. [Masters Thesis]. University of South Carolina; 2020. Available from: https://scholarcommons.sc.edu/etd/5747
23.
Wegrzyn, Dominik.
Creating 3D object descriptors using a genetic algorithm.
Degree: 2013, RCAAP
URL: https://www.rcaap.pt/detail.jsp?id=oai:ubibliorum.ubi.pt:10400.6/3694
► In the technological world that we live in, the need for computer vision became almost as important as human vision. We are surrounded be all…
(more)
▼ In the technological world that we live in, the need for computer vision became almost as important as human vision. We are surrounded be all kinds of machines that need to have their own virtual eyes. The most developed cars have software that can analyze traffic signs in order to warn the driver about the eventsontheroad. Whenwesendaspacerovertootherplanetitisimportantthatitcananalyzetheground in order to avoid obstacles that would lead to its destruction. Thereisstillmuchworktobedoneinthefieldofcomputervisionwiththeviewtoimprovetheperformance and speed of recognition tasks. There are many available descriptors used for 3D point cloud recognition and some of them are explained in this thesis. The aim of this work is to design descriptors that can match correctly 3D point clouds. The idea is to use artificial intelligence, in the form of a GA to obtain optimized parameters for the descriptors. For this purpose the PCL [RC11] is used, which deals with the manipulation of 3D points data. The created descriptors are explained and experiments are done to illustrate their performance. The main conclusions are that there is still much work to be done in shape recognition. The descriptor developed in this thesis that use only color information is better than the descriptors that use only shape data. Although we have achieved descriptors withgoodperformanceinthisthesis,therecouldbeawaytoimprovethemevenmore. As the descriptor that use only color data is better than the shape-only descriptors, we can expect that there is a better way to represent the shape of an object. Humans can recognize better objects by shape than by color, what makes us wonder if there is a way to improve the techniques used for shape description.
Advisors/Committee Members: Alexandre, Luís.
Subjects/Keywords: Genetic algorithm; Genetic algorithm - Object 3D
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APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Wegrzyn, D. (2013). Creating 3D object descriptors using a genetic algorithm. (Thesis). RCAAP. Retrieved from https://www.rcaap.pt/detail.jsp?id=oai:ubibliorum.ubi.pt:10400.6/3694
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Wegrzyn, Dominik. “Creating 3D object descriptors using a genetic algorithm.” 2013. Thesis, RCAAP. Accessed January 18, 2021.
https://www.rcaap.pt/detail.jsp?id=oai:ubibliorum.ubi.pt:10400.6/3694.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Wegrzyn, Dominik. “Creating 3D object descriptors using a genetic algorithm.” 2013. Web. 18 Jan 2021.
Vancouver:
Wegrzyn D. Creating 3D object descriptors using a genetic algorithm. [Internet] [Thesis]. RCAAP; 2013. [cited 2021 Jan 18].
Available from: https://www.rcaap.pt/detail.jsp?id=oai:ubibliorum.ubi.pt:10400.6/3694.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Wegrzyn D. Creating 3D object descriptors using a genetic algorithm. [Thesis]. RCAAP; 2013. Available from: https://www.rcaap.pt/detail.jsp?id=oai:ubibliorum.ubi.pt:10400.6/3694
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Columbia University
24.
Rajbhandari, Presha.
Systematic elucidation of transcriptional network necessary for initiation and maintenance of high-risk neuroblastoma.
Degree: 2016, Columbia University
URL: https://doi.org/10.7916/D8J67H0X
► Neuroblastoma is a heterogeneous pediatric malignancy originating from the developing sympathetic nervous system, with poor long-term survival for high-risk patients (~40%). About half of advanced…
(more)
▼ Neuroblastoma is a heterogeneous pediatric malignancy originating from the developing sympathetic nervous system, with poor long-term survival for high-risk patients (~40%). About half of advanced neuroblastomas harbor high-level amplification of the MYCN gene, and these tumors show few, if any, additional driver lesions. Despite significant increase in the body of knowledge of genetics in neuroblastoma, all the high-risk patients follow similar therapeutic procedures and little advancement has been made on molecular target based therapies. The major challenge is to dissect the complexity and heterogeneity of these tumors to find driver genes and activated pathways that are essential for the survival of these cancer cells.
We used an integrated systems biology approach to define the core regulatory machinery responsible for maintenance of an aggressive neuroblastoma phenotypic state. In the first part of the thesis, I will discuss our computational approach to decipher the tumor heterogeneity by subtype classification, followed by identification of master regulator protein modules for three distinct molecular subtypes of high-risk neuroblastomas, which were validated in a large independent cohort of cases. We propose that such modules are responsible for integrating the effect of mutations in upstream pathways and for regulating the genetic programs and pathways necessary for tumor state implementation and maintenance.
The second part of the thesis is focused on experimental validation of putative master regulators in the subtype of neuroblastomas associated with MYCN amplification. By using RNAi screening followed by experimental and computational analyses to elucidate the interdependencies between the top master regulators, we identified TEAD4-MYCN positive feedback loop as a major tumor maintenance mechanism in this subtype. While MYCN regulates TEAD4 transcriptionally, TEAD4 regulates MYCN through transcriptional and post-translational mechanisms. Jointly, MYCN and TEAD4 regulate 90% of inferred MR proteins and causally orchestrate 70% of the subtype-specific gene expression signature. TEAD4 gene expression was associated with neuroblastoma patient survival independently of age, tumor stage and MYCN status (P=2.1e-02). In cellular assays, MYCN promoted growth and repressed differentiation, while TEAD4 activated proliferation and DNA damage repair programs, the signature hallmarks of MYCN-amplified neuroblastoma cells. Specifically, TEAD4 was shown to induce MYCN-independent proliferation by transactivating key genes implicated in high-risk neuroblastoma pathogenesis, including cyclin-dependent kinases, cyclins, E2Fs, DNA replication factors, checkpoint kinases and ubiquitin ligases. The critical role of the core master regulator module in controlling tumor cell viability, both in vitro and in vivo, and its clinical relevance as a prognostic factor highlights TEAD4 as a novel and highly effective candidate target for therapeutic intervention.
In this thesis, we demonstrate that interrogation of…
Subjects/Keywords: Genetic regulation; Carcinogenesis; Neuroblastoma – Genetic aspects; Oncology
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APA (6th Edition):
Rajbhandari, P. (2016). Systematic elucidation of transcriptional network necessary for initiation and maintenance of high-risk neuroblastoma. (Doctoral Dissertation). Columbia University. Retrieved from https://doi.org/10.7916/D8J67H0X
Chicago Manual of Style (16th Edition):
Rajbhandari, Presha. “Systematic elucidation of transcriptional network necessary for initiation and maintenance of high-risk neuroblastoma.” 2016. Doctoral Dissertation, Columbia University. Accessed January 18, 2021.
https://doi.org/10.7916/D8J67H0X.
MLA Handbook (7th Edition):
Rajbhandari, Presha. “Systematic elucidation of transcriptional network necessary for initiation and maintenance of high-risk neuroblastoma.” 2016. Web. 18 Jan 2021.
Vancouver:
Rajbhandari P. Systematic elucidation of transcriptional network necessary for initiation and maintenance of high-risk neuroblastoma. [Internet] [Doctoral dissertation]. Columbia University; 2016. [cited 2021 Jan 18].
Available from: https://doi.org/10.7916/D8J67H0X.
Council of Science Editors:
Rajbhandari P. Systematic elucidation of transcriptional network necessary for initiation and maintenance of high-risk neuroblastoma. [Doctoral Dissertation]. Columbia University; 2016. Available from: https://doi.org/10.7916/D8J67H0X

University of Newcastle
25.
Cornell, Paige.
Women's experiences of non-invasive prenatal testing.
Degree: 2020, University of Newcastle
URL: http://hdl.handle.net/1959.13/1412442
► Masters Coursework - Master of Clinical Psychology (MClinPsych)
While the uptake of non-invasive prenatal testing (NIPT) continues to increase, the provision of pre-test genetic counseling…
(more)
▼ Masters Coursework - Master of Clinical Psychology (MClinPsych)
While the uptake of non-invasive prenatal testing (NIPT) continues to increase, the provision of pre-test genetic counseling remains unregulated in Australia. This study sought to characterise the experiences of women undergoing NIPT. We investigated participants’ perceptions of informed choice, genetic counseling experiences and decision to undergo NIPT. Women who had been recently pregnant volunteered to complete an online survey which assessed their knowledge of and attitude toward NIPT; satisfaction with genetic counseling; satisfaction of their decision, and decisional conflict to undergo NIPT. The survey also gathered pregnancy-specific and demographic information, and allowed participants to provide qualitative information about their counseling experience and reasons for undergoing NIPT. A total of 94 participants were included in the analysis. Overall, participants had good knowledge of and positive attitudes toward NIPT, experienced low decisional conflict and were overall satisfied with their genetic counseling experience and decision to undergo NIPT. Some participants however, expressed dissatisfaction with the lack of information provided and biased language by pre-test genetic counseling providers. The desire to be informed was the most frequent reason for undergoing NIPT. This study highlighted the importance of providing accurate and objective information in pre-test genetic counseling to reduce decisional conflict and improve satisfaction with the decision to undergo NIPT.
Advisors/Committee Members: University of Newcastle. Faculty of Science, School of Psychology.
Subjects/Keywords: genetic counseling; decision making; genetic testing
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APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
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APA (6th Edition):
Cornell, P. (2020). Women's experiences of non-invasive prenatal testing. (Thesis). University of Newcastle. Retrieved from http://hdl.handle.net/1959.13/1412442
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Cornell, Paige. “Women's experiences of non-invasive prenatal testing.” 2020. Thesis, University of Newcastle. Accessed January 18, 2021.
http://hdl.handle.net/1959.13/1412442.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Cornell, Paige. “Women's experiences of non-invasive prenatal testing.” 2020. Web. 18 Jan 2021.
Vancouver:
Cornell P. Women's experiences of non-invasive prenatal testing. [Internet] [Thesis]. University of Newcastle; 2020. [cited 2021 Jan 18].
Available from: http://hdl.handle.net/1959.13/1412442.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Cornell P. Women's experiences of non-invasive prenatal testing. [Thesis]. University of Newcastle; 2020. Available from: http://hdl.handle.net/1959.13/1412442
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Hong Kong University of Science and Technology
26.
Yu, Chuan LIFS.
Structure and function study of DISC1.
Degree: 2017, Hong Kong University of Science and Technology
URL: http://repository.ust.hk/ir/Record/1783.1-103116
;
https://doi.org/10.14711/thesis-991012535960803412
;
http://repository.ust.hk/ir/bitstream/1783.1-103116/1/th_redirect.html
► Since DISC1 (disrupted in schizophrenia 1) has been identified as a risk gene factor of psychiatric disease from a large Scottish family, tons of thousands…
(more)
▼ Since DISC1 (disrupted in schizophrenia 1) has been identified as a risk gene factor of psychiatric disease from a large Scottish family, tons of thousands of studies concentrate on this mystery gene. Mutations of DISC1 have been associated with major psychiatric disorders including schizophrenia, bipolar disorder and major recurrent depression. Despite the hundreds of DISC1 binding proteins and various aspects of functions are reported, little is known about how DISC1 interacts with other proteins structurally to impact human brain development. In the first half of this thesis, we focus on the regulation of mitosis and neurogenesis via DISC1/Ndel1 interaction. First, we confirmed the strong direct interaction between DISC1 C-terminal tail and Ndel1 C-terminal coiled-coil region using ITC, FPLC and other biochemical approaches. Then we solved the high resolution structure of DISC1 C-terminal tail in complex with its binding domain of Ndel1 with the help of NMR spectrometry. Surprisingly, we found that DISC1 C-terminal peptide can significantly elongate the mitosis time length and interfere with cell cycle progression. Mechanistically, DISC1 regulates Ndel1’s kinetochore localization but not its centrosome localization during mitosis. Further study uncovers DISC1 can regulate the interaction between Ndel1 and CENPF, one of major outer kinetochore protein. Our study uncovers a new possible mechanism of DISC1-mediated mitosis and neurogenesis regulation and has implications for how risk gene factors may contribute to psychiatric disorders. In the second half of this thesis, we focus on the regulation of gene transcription via DISC1/ATF4 interaction. Similar to the DISC1/Ndel1 project, we also confirmed the strong direct interaction between DISC1 C-terminal tail and ATF4 C-terminal helix region using similar biochemical approaches. Then we solved the high resolution structure of ATF4 C-terminal coiled-coil in complex with DISC1 C-terminal tail. Moreover, we showed that DISC1 can totally disrupt the dimerization of ATF4 which is also mediated by DISC1 binding site. Consistently, we use ITC and NMR spectra method to clearly demonstrate DISC1 can release ATF4 from DNA via strong interaction with ATF4 and disruption the dimerization of ATF4. Our study uncovers another possible mechanism of DISC1-mediated transcriptional regulation.
Subjects/Keywords: Schizophrenia
; Genetic aspects
; Mitosis
; Regulation
; Genetic regulation
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❌
APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Yu, C. L. (2017). Structure and function study of DISC1. (Thesis). Hong Kong University of Science and Technology. Retrieved from http://repository.ust.hk/ir/Record/1783.1-103116 ; https://doi.org/10.14711/thesis-991012535960803412 ; http://repository.ust.hk/ir/bitstream/1783.1-103116/1/th_redirect.html
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Yu, Chuan LIFS. “Structure and function study of DISC1.” 2017. Thesis, Hong Kong University of Science and Technology. Accessed January 18, 2021.
http://repository.ust.hk/ir/Record/1783.1-103116 ; https://doi.org/10.14711/thesis-991012535960803412 ; http://repository.ust.hk/ir/bitstream/1783.1-103116/1/th_redirect.html.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Yu, Chuan LIFS. “Structure and function study of DISC1.” 2017. Web. 18 Jan 2021.
Vancouver:
Yu CL. Structure and function study of DISC1. [Internet] [Thesis]. Hong Kong University of Science and Technology; 2017. [cited 2021 Jan 18].
Available from: http://repository.ust.hk/ir/Record/1783.1-103116 ; https://doi.org/10.14711/thesis-991012535960803412 ; http://repository.ust.hk/ir/bitstream/1783.1-103116/1/th_redirect.html.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Yu CL. Structure and function study of DISC1. [Thesis]. Hong Kong University of Science and Technology; 2017. Available from: http://repository.ust.hk/ir/Record/1783.1-103116 ; https://doi.org/10.14711/thesis-991012535960803412 ; http://repository.ust.hk/ir/bitstream/1783.1-103116/1/th_redirect.html
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

University of Aberdeen
27.
McFarland, Matthew R.
Transfer RNAs as regulatory agents in the translational control of gene expression.
Degree: PhD, 2016, University of Aberdeen
URL: https://eu03.alma.exlibrisgroup.com/view/delivery/44ABE_INST/12152811310005941
;
https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.715449
► Translational efficiency is dictated in part by the availability of charged transfer RNA. Depletion of aminoacylated tRNAs (e.g. during recombinant protein expression) can increase translational…
(more)
▼ Translational efficiency is dictated in part by the availability of charged transfer RNA. Depletion of aminoacylated tRNAs (e.g. during recombinant protein expression) can increase translational errors and associated stress responses. Here, the role of tRNAs as regulators of gene expression was explored through development of synthetic, tRNA-regulated gene circuits, and through an investigation of the impact of tRNA aminoacylation on endogenous gene expression. Synthetic gene circuits initially explored the use of dominant negative alleles of the release factor eRF1 to modulate stop codon readthrough and translationally regulate gene expression. Mutant eRF1 proteins exhibited only a six-fold stimulatory effect on stop codon readthrough. The dominant negative phenotype was rescued partially by overexpression of eRF1, but not eRF3. Ultimately the severity of growth inhibition by these eRF1 alleles limited their utility in synthetic gene circuit design. A novel synthetic circuit was then implemented that utilised TetR interaction with a TetR-inducing peptide in order to control the expression of a suppressor tRNA, and thus a luciferase reporter gene. Using a parameterised mathematical model, the promoter configuration of the circuit was successfully optimised, allowing suppressor tRNAs to regulate the production of luciferase in both feedforward and positive feedback modes of operation. The effects of charged tRNA levels on the global translation network were dissected by regulating the S.cerevisiae glutamine tRNA synthetase gene GLN4 using a tet-off doxycyclineregulated promoter. tRNA synthetase depletion caused the activation of the Gcn4 amino acid starvation response due to accumulation of uncharged glutamine tRNAs. Doxycycline GLN4 shut-off caused increased amino acid production, and decreased ribosome biosynthesis at the transcriptomic and proteomic level, and further physiological changes proposed to result from compromised translation of glutamine-rich regulatory proteins. tRNA overexpression in the GLN4 depletion strain successfully caused altered competition between different isoacceptor tRNA types for their cognate synthetase resource. Together, these results support a growing understanding of tRNA as a key modulator of translation and gene expression in synthetic and natural systems.
Subjects/Keywords: 572.8; Genetic translation; Genetic regulation; Transfer RNA
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❌
APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
McFarland, M. R. (2016). Transfer RNAs as regulatory agents in the translational control of gene expression. (Doctoral Dissertation). University of Aberdeen. Retrieved from https://eu03.alma.exlibrisgroup.com/view/delivery/44ABE_INST/12152811310005941 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.715449
Chicago Manual of Style (16th Edition):
McFarland, Matthew R. “Transfer RNAs as regulatory agents in the translational control of gene expression.” 2016. Doctoral Dissertation, University of Aberdeen. Accessed January 18, 2021.
https://eu03.alma.exlibrisgroup.com/view/delivery/44ABE_INST/12152811310005941 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.715449.
MLA Handbook (7th Edition):
McFarland, Matthew R. “Transfer RNAs as regulatory agents in the translational control of gene expression.” 2016. Web. 18 Jan 2021.
Vancouver:
McFarland MR. Transfer RNAs as regulatory agents in the translational control of gene expression. [Internet] [Doctoral dissertation]. University of Aberdeen; 2016. [cited 2021 Jan 18].
Available from: https://eu03.alma.exlibrisgroup.com/view/delivery/44ABE_INST/12152811310005941 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.715449.
Council of Science Editors:
McFarland MR. Transfer RNAs as regulatory agents in the translational control of gene expression. [Doctoral Dissertation]. University of Aberdeen; 2016. Available from: https://eu03.alma.exlibrisgroup.com/view/delivery/44ABE_INST/12152811310005941 ; https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.715449

Brandeis University
28.
Jackson, Meghan.
Genetic Disorders with Psychiatric Manifestations: A Survey of Genetic Counselors.
Degree: 2011, Brandeis University
URL: http://hdl.handle.net/10192/24358
► In recent years it has become recognized that many genetic disorders, such as VCFS, may include psychiatric manifestations as part of the phenotype. Individuals diagnosed…
(more)
▼ In recent years it has become recognized that many genetic disorders, such as VCFS, may include psychiatric manifestations as part of the phenotype. Individuals diagnosed with one of these disorders have an increased risk to develop psychiatric illness in childhood or as adults. Previous research by Sachs (2008) demonstrated that parents of children with VCFS preferred to learn about the risk of psychiatric illness from a medical provider at the time that the diagnosis is made. However, in practice many of the parents learned about the increased risk for psychiatric conditions through the internet. In the current study, we wished to explore the opinions and practices of genetic counselors regarding the disclosure of risk for psychiatric illness that accompanies VCFS, Klinefelter syndrome, Prader-Willi and Williams syndrome. We recruited
prenatal and pediatric genetic counselors through the NSGC listserv to complete an anonymous, online survey that included multiple choice and Likert-scale questions. A total of 42 prenatal and 38 pediatric counselors completed the survey, for a total of 80 responses. Overall, the prenatal counselors were more likely than the pediatric counselors to discuss the risk to develop psychiatric illness with families. However, the prenatal counselors reported that they often only mention the increased risk to families while the pediatric counselors reported they were more likely to discuss details, such as treatment options, diagnostic criteria and natural history. Our participants reported that if there were better treatment and/or preventative options to offer families they would feel more comfortable discussing the risk with families. Interestingly, the respondents reported that the ability to offer predictive genetic testing for mental illness would not have a major impact on their likelihood to discuss the increased risk. Our findings suggest that future efforts should focus on increasing counselors’ knowledge of and comfort regarding mental illness.
Subjects/Keywords: Genetic Counseling; Mental Illness; Genetic Disorders
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APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Jackson, M. (2011). Genetic Disorders with Psychiatric Manifestations: A Survey of Genetic Counselors. (Thesis). Brandeis University. Retrieved from http://hdl.handle.net/10192/24358
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Jackson, Meghan. “Genetic Disorders with Psychiatric Manifestations: A Survey of Genetic Counselors.” 2011. Thesis, Brandeis University. Accessed January 18, 2021.
http://hdl.handle.net/10192/24358.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Jackson, Meghan. “Genetic Disorders with Psychiatric Manifestations: A Survey of Genetic Counselors.” 2011. Web. 18 Jan 2021.
Vancouver:
Jackson M. Genetic Disorders with Psychiatric Manifestations: A Survey of Genetic Counselors. [Internet] [Thesis]. Brandeis University; 2011. [cited 2021 Jan 18].
Available from: http://hdl.handle.net/10192/24358.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Jackson M. Genetic Disorders with Psychiatric Manifestations: A Survey of Genetic Counselors. [Thesis]. Brandeis University; 2011. Available from: http://hdl.handle.net/10192/24358
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Brandeis University
29.
Flamos, Talia.
Exploring the Intersection of Pediatric Genetic Counseling and the U.S. Foster Care System.
Degree: 2019, Brandeis University
URL: http://hdl.handle.net/10192/36751
► Six percent of children in the United States spend some time in the foster care system by their 18th birthday. Previous research has reported that…
(more)
▼ Six percent of children in the United States spend some time in the foster care system by their 18th birthday. Previous research has reported that children in the foster care system have an increased incidence of medical and developmental concerns, and that children with complex medical needs tend to have poorer long-term outcomes of placement and more transient care. Given that medically complex cases are often appropriate to consider a referral to a genetics clinic, a genetic counselor may be one part of the healthcare system that a child in foster care may encounter. Since much of a pediatric genetic counseling session relies on access to family and developmental history information, often gleaned from the biological parents, this study aimed to determine the impact that the unique aspects of foster care have on a genetic counseling session. Pediatric genetic counselors, who had previously counseled at least one patient in the foster care system, were recruited from the NSGC email listserv to participate in an anonymous online survey. Of the 125 respondents, 40% reported seeing a patient in foster care at least twice a month, most commonly for developmental delay or intellectual disability/autism spectrum disorders evaluations. The majority (70.4%) of respondents stated that the referral reasons for their patients in foster care were similar to the rest of their practice. However, over 75% of respondents reported that there are aspects of their counseling that are different when a patient is in foster care. These differences presented in both in the logistical aspects, such as access to patient history, and the psychosocial features of the genetics evaluation, such as determining who is involved in the decision-making or navigating family dynamics. Over 50% of respondents ranked access to history information as a factor that had a high impact on their sessions. More than 60% of respondents agreed that incomplete history information may make it difficult to determine the most appropriate testing strategy, and over 80% agreed that it can lead to a fair amount of uncertainty about the genetic contribution to a child’s developmental or health concerns. The perspectives of the genetic counselors that participated in this research highlighted the need for increased education on the foster care system for providers, increased awareness of the specific psychosocial issues that may need to be addressed, and revealed the lack of knowledge of any standardized protocols for providers and specific resources for foster families.
Subjects/Keywords: pediatric; genetic counseling; genetic counselor; foster care
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❌
APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Flamos, T. (2019). Exploring the Intersection of Pediatric Genetic Counseling and the U.S. Foster Care System. (Thesis). Brandeis University. Retrieved from http://hdl.handle.net/10192/36751
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Flamos, Talia. “Exploring the Intersection of Pediatric Genetic Counseling and the U.S. Foster Care System.” 2019. Thesis, Brandeis University. Accessed January 18, 2021.
http://hdl.handle.net/10192/36751.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Flamos, Talia. “Exploring the Intersection of Pediatric Genetic Counseling and the U.S. Foster Care System.” 2019. Web. 18 Jan 2021.
Vancouver:
Flamos T. Exploring the Intersection of Pediatric Genetic Counseling and the U.S. Foster Care System. [Internet] [Thesis]. Brandeis University; 2019. [cited 2021 Jan 18].
Available from: http://hdl.handle.net/10192/36751.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Flamos T. Exploring the Intersection of Pediatric Genetic Counseling and the U.S. Foster Care System. [Thesis]. Brandeis University; 2019. Available from: http://hdl.handle.net/10192/36751
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Laurentian University
30.
Laurence, Sophie.
Genetic variation and population genetic structure of muskrat, Ondatra Zibethicus, at different spatial scales
.
Degree: 2014, Laurentian University
URL: https://zone.biblio.laurentian.ca/dspace/handle/10219/2171
► Understanding the factors and processes that influence intraspecific genetic variation are essential to better understand evolutionary processes. In this research, I examined patterns of gene…
(more)
▼ Understanding the factors and processes that influence intraspecific genetic variation are essential to better understand evolutionary processes. In this research, I examined patterns of gene flow and their effects on the distribution of genetic variation and spatial genetic structuring at different spatial scales. I used a combination of population genetics, spatial analysis, morphometrics and phylogeography in order to understand the patterns of genetic variation and their resulting phenotypic variations in a semi-aquatic species, the muskrat (Ondatra zibethicus).
Subjects/Keywords: Genetic variation;
Population genetic structure;
Muskrat
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❌
APA ·
Chicago ·
MLA ·
Vancouver ·
CSE |
Export
to Zotero / EndNote / Reference
Manager
APA (6th Edition):
Laurence, S. (2014). Genetic variation and population genetic structure of muskrat, Ondatra Zibethicus, at different spatial scales
. (Thesis). Laurentian University. Retrieved from https://zone.biblio.laurentian.ca/dspace/handle/10219/2171
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Chicago Manual of Style (16th Edition):
Laurence, Sophie. “Genetic variation and population genetic structure of muskrat, Ondatra Zibethicus, at different spatial scales
.” 2014. Thesis, Laurentian University. Accessed January 18, 2021.
https://zone.biblio.laurentian.ca/dspace/handle/10219/2171.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
MLA Handbook (7th Edition):
Laurence, Sophie. “Genetic variation and population genetic structure of muskrat, Ondatra Zibethicus, at different spatial scales
.” 2014. Web. 18 Jan 2021.
Vancouver:
Laurence S. Genetic variation and population genetic structure of muskrat, Ondatra Zibethicus, at different spatial scales
. [Internet] [Thesis]. Laurentian University; 2014. [cited 2021 Jan 18].
Available from: https://zone.biblio.laurentian.ca/dspace/handle/10219/2171.
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
Council of Science Editors:
Laurence S. Genetic variation and population genetic structure of muskrat, Ondatra Zibethicus, at different spatial scales
. [Thesis]. Laurentian University; 2014. Available from: https://zone.biblio.laurentian.ca/dspace/handle/10219/2171
Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation
◁ [1] [2] [3] [4] [5] … [499] ▶
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