+publisher:"Vanderbilt University" +contributor:("Chun Li")

Vanderbilt University

1. Wanga, Valentine Adhiambo. Residual-based Test of Conditional Association between Continuous and Ordinal Variables with Application to Genome-wide Association Studies.

Degree: MS, Biostatistics, 2014, Vanderbilt University

URL: http://hdl.handle.net/1803/12859

► The discovery of genes linked with a large array of diseases has been accelerated by genome-wide association studies (GWAS), in which genetic variants in different… (more)

Subjects/Keywords: categorical.; additive; recessive; tenofovir; HIV; pharmacokinetics; creatinine clearance; CoCoBOT; dominant

Record Details Similar Records Cite « Share

❌

APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Wanga, V. A. (2014). Residual-based Test of Conditional Association between Continuous and Ordinal Variables with Application to Genome-wide Association Studies. (Thesis). Vanderbilt University. Retrieved from http://hdl.handle.net/1803/12859

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Wanga, Valentine Adhiambo. “Residual-based Test of Conditional Association between Continuous and Ordinal Variables with Application to Genome-wide Association Studies.” 2014. Thesis, Vanderbilt University. Accessed January 22, 2021. http://hdl.handle.net/1803/12859.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Wanga, Valentine Adhiambo. “Residual-based Test of Conditional Association between Continuous and Ordinal Variables with Application to Genome-wide Association Studies.” 2014. Web. 22 Jan 2021.

Vancouver:

Wanga VA. Residual-based Test of Conditional Association between Continuous and Ordinal Variables with Application to Genome-wide Association Studies. [Internet] [Thesis]. Vanderbilt University; 2014. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/1803/12859.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Wanga VA. Residual-based Test of Conditional Association between Continuous and Ordinal Variables with Application to Genome-wide Association Studies. [Thesis]. Vanderbilt University; 2014. Available from: http://hdl.handle.net/1803/12859

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Vanderbilt University

2. Koran, Mary Ellen Irene. Imaging and Genetics of Two Amyloid Related Diseases: Alzheimer’s Disease and Down Syndrome.

Degree: PhD, Human Genetics, 2014, Vanderbilt University

URL: http://hdl.handle.net/1803/10539

► Alzheimer’s Disease is an irreversible, degenerative disease of the brain that accounts for a majority of dementia cases each year, in both the general population… (more)

Subjects/Keywords: imaging; genetics; amyloid; alzheimers; aging; down; downs; MRI; PET

Record Details Similar Records Cite « Share

❌

APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Koran, M. E. I. (2014). Imaging and Genetics of Two Amyloid Related Diseases: Alzheimer’s Disease and Down Syndrome. (Doctoral Dissertation). Vanderbilt University. Retrieved from http://hdl.handle.net/1803/10539

Chicago Manual of Style (16^th Edition):

Koran, Mary Ellen Irene. “Imaging and Genetics of Two Amyloid Related Diseases: Alzheimer’s Disease and Down Syndrome.” 2014. Doctoral Dissertation, Vanderbilt University. Accessed January 22, 2021. http://hdl.handle.net/1803/10539.

MLA Handbook (7^th Edition):

Koran, Mary Ellen Irene. “Imaging and Genetics of Two Amyloid Related Diseases: Alzheimer’s Disease and Down Syndrome.” 2014. Web. 22 Jan 2021.

Vancouver:

Koran MEI. Imaging and Genetics of Two Amyloid Related Diseases: Alzheimer’s Disease and Down Syndrome. [Internet] [Doctoral dissertation]. Vanderbilt University; 2014. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/1803/10539.

Council of Science Editors:

Koran MEI. Imaging and Genetics of Two Amyloid Related Diseases: Alzheimer’s Disease and Down Syndrome. [Doctoral Dissertation]. Vanderbilt University; 2014. Available from: http://hdl.handle.net/1803/10539

Vanderbilt University

3. Hoffman, Joshua David. Modeling Macular Degeneration Using Quantitative Phenotypes.

Degree: PhD, Human Genetics, 2015, Vanderbilt University

URL: http://hdl.handle.net/1803/10680

► Age-related macular degeneration (AMD) is one of the most common causes of visual impairment in the United States (US). Although a multitude of studies have… (more)

Subjects/Keywords: AMD; genetics; Age-Related Macular Degeneration; genomics; assocation analysis; linkage analysis

Record Details Similar Records Cite « Share

❌

APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Hoffman, J. D. (2015). Modeling Macular Degeneration Using Quantitative Phenotypes. (Doctoral Dissertation). Vanderbilt University. Retrieved from http://hdl.handle.net/1803/10680

Chicago Manual of Style (16^th Edition):

Hoffman, Joshua David. “Modeling Macular Degeneration Using Quantitative Phenotypes.” 2015. Doctoral Dissertation, Vanderbilt University. Accessed January 22, 2021. http://hdl.handle.net/1803/10680.

MLA Handbook (7^th Edition):

Hoffman, Joshua David. “Modeling Macular Degeneration Using Quantitative Phenotypes.” 2015. Web. 22 Jan 2021.

Vancouver:

Hoffman JD. Modeling Macular Degeneration Using Quantitative Phenotypes. [Internet] [Doctoral dissertation]. Vanderbilt University; 2015. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/1803/10680.

Council of Science Editors:

Hoffman JD. Modeling Macular Degeneration Using Quantitative Phenotypes. [Doctoral Dissertation]. Vanderbilt University; 2015. Available from: http://hdl.handle.net/1803/10680

Vanderbilt University

4. Song, Zhuo. Stochastic modeling of mitochondrial polymerase gamma replication and novel algorithms to enrich rare disease alleles and detect tumor somatic mutations in deep sequencing data.

Degree: PhD, Human Genetics, 2012, Vanderbilt University

URL: http://hdl.handle.net/1803/10702

► The activity of polymerase ã (pol ã) is complicated. To understand how its kinetics values affect the final function of the pol ã, I created… (more)

Subjects/Keywords: tumor somatic mutations; targeted sequencing; NRTI; polymerase gamma; mtDNA replication

Record Details Similar Records Cite « Share

❌

APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Song, Z. (2012). Stochastic modeling of mitochondrial polymerase gamma replication and novel algorithms to enrich rare disease alleles and detect tumor somatic mutations in deep sequencing data. (Doctoral Dissertation). Vanderbilt University. Retrieved from http://hdl.handle.net/1803/10702

Chicago Manual of Style (16^th Edition):

Song, Zhuo. “Stochastic modeling of mitochondrial polymerase gamma replication and novel algorithms to enrich rare disease alleles and detect tumor somatic mutations in deep sequencing data.” 2012. Doctoral Dissertation, Vanderbilt University. Accessed January 22, 2021. http://hdl.handle.net/1803/10702.

MLA Handbook (7^th Edition):

Song, Zhuo. “Stochastic modeling of mitochondrial polymerase gamma replication and novel algorithms to enrich rare disease alleles and detect tumor somatic mutations in deep sequencing data.” 2012. Web. 22 Jan 2021.

Vancouver:

Song Z. Stochastic modeling of mitochondrial polymerase gamma replication and novel algorithms to enrich rare disease alleles and detect tumor somatic mutations in deep sequencing data. [Internet] [Doctoral dissertation]. Vanderbilt University; 2012. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/1803/10702.

Council of Science Editors:

Song Z. Stochastic modeling of mitochondrial polymerase gamma replication and novel algorithms to enrich rare disease alleles and detect tumor somatic mutations in deep sequencing data. [Doctoral Dissertation]. Vanderbilt University; 2012. Available from: http://hdl.handle.net/1803/10702

Vanderbilt University

5. Zuvich, Rebecca Lynn. Identification of Additional Independent Loci in the Major Histocompatibility Complex in Multiple Sclerosis Susceptibility.

Degree: MS, Interdisciplinary Studies: Applied Statistics, 2010, Vanderbilt University

URL: http://hdl.handle.net/1803/13435

► Multiple sclerosis (MS) is characterized as an autoimmune neurodegenerative disease. The disease manifests as demyelination or degradation of the myelin sheath in the central nervous… (more)

Subjects/Keywords: multiple sclerosis; statistics

Record Details Similar Records Cite « Share

❌

APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Zuvich, R. L. (2010). Identification of Additional Independent Loci in the Major Histocompatibility Complex in Multiple Sclerosis Susceptibility. (Thesis). Vanderbilt University. Retrieved from http://hdl.handle.net/1803/13435

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16^th Edition):

Zuvich, Rebecca Lynn. “Identification of Additional Independent Loci in the Major Histocompatibility Complex in Multiple Sclerosis Susceptibility.” 2010. Thesis, Vanderbilt University. Accessed January 22, 2021. http://hdl.handle.net/1803/13435.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7^th Edition):

Zuvich, Rebecca Lynn. “Identification of Additional Independent Loci in the Major Histocompatibility Complex in Multiple Sclerosis Susceptibility.” 2010. Web. 22 Jan 2021.

Vancouver:

Zuvich RL. Identification of Additional Independent Loci in the Major Histocompatibility Complex in Multiple Sclerosis Susceptibility. [Internet] [Thesis]. Vanderbilt University; 2010. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/1803/13435.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Zuvich RL. Identification of Additional Independent Loci in the Major Histocompatibility Complex in Multiple Sclerosis Susceptibility. [Thesis]. Vanderbilt University; 2010. Available from: http://hdl.handle.net/1803/13435

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Vanderbilt University

6. Delahanty, Ryan James. Towards an understanding of the role of chromosome 15q11-q13 in idiopathic autism.

Degree: PhD, Human Genetics, 2010, Vanderbilt University

URL: http://hdl.handle.net/1803/10492

► TOWARD AN UNDERSTANDING OF THE ROLE OF CHROMOSOME 15Q11-Q13 IN IDIOPATHIC AUTISM RYAN JAMES DELAHANTY Dissertation under the direction of Dr. James S. Sutcliffe The… (more)

▼ TOWARD AN UNDERSTANDING OF THE ROLE OF CHROMOSOME 15Q11-Q13 IN IDIOPATHIC AUTISM RYAN JAMES DELAHANTY Dissertation under the direction of Dr. James S. Sutcliffe The 15q11-q13 region is a genomic interval involved in a growing number of genomic disorders. The genes in the interval are subject to imprinting and parent-of-origin expression effects. Maternal duplication of the 15q11-q13 region is the most frequent chromosomal abnormality associated with autism. Extensive work has indicated that two genes in this interval, UBE3A and GABRB3, show very strong evidence for association with autism. To examine the extent to which these genes may contribute to autism, family-based association studies of UBE3A and GABRB3 were undertaken. Here we have investigated the role of common variants of UBE3A and GABRB3 in autism as well as the an intense investigation of the association of a rare variant, P11S in GABRB3 and its role in autism. In addition, we have investigated MECP2, a gene which when defective causes Rett syndrome, and potentially regulates gene expression of UBE3A and GABRB3. e have used genetic and biochemical methods to investigate two genes in the UBE3A network, ECT2 and GCH1. Finally, we used genotype data and multiplex ligation probe amplification (MLPA) to determine if copy number variation in the form of deletions and duplications in UBE3A and GABRB3 may play a role in the etiology of autism. Our findings indicated that a common allele of MECP2 is associated with autism, which was replicated by another group. We show association with UBE3A and its associated genes ECT2 and GCH1 as well as a relationship between UBE3A and GCH1 gene and protein expression, observed in a model system, and validated in our samples, which may provide guidance and support for a role of UBE3A and its action at the synapse and potential contribution to autism. We show modest association of GABRB3 with autism and epilepsy, but find a single coding variant, P11S, maternally overtransmitted and in such cases dramatically increasing autism risk. Finally, we found little evidence for microdeletions or microduplications in UBE3A and GABRB3 to contribute to autism pathology. The work presented in this thesis expands on earlier findings with regard to the role of GABRB3 and UBE3A in autism and represents an investigation of variants in these and their related genes spanning the spectrum from common variants of modest effect to rare variants of more profound effect. The availability of new technologies to evaluate copy number variation and next generation sequencing will likely uncover a wider role for 15q11-q13 and related loci in autism. The role of more highly penetrant private mutations of this nature is suggested as an avenue for further investigation. Advisors/Committee Members: Lawrence T. Reiter (committee member), John A. Phillips III (committee member), Chun Li (committee member), James Sutcliffe (committee member), Scott Williams (Committee Chair).

Subjects/Keywords: 15q11-q13; association; autism; GABRB3; UBE3A; ECT2; GCH1; CNV; MECP2

Record Details Similar Records Cite « Share

❌

APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6^th Edition):

Delahanty, R. J. (2010). Towards an understanding of the role of chromosome 15q11-q13 in idiopathic autism. (Doctoral Dissertation). Vanderbilt University. Retrieved from http://hdl.handle.net/1803/10492

Chicago Manual of Style (16^th Edition):

Delahanty, Ryan James. “Towards an understanding of the role of chromosome 15q11-q13 in idiopathic autism.” 2010. Doctoral Dissertation, Vanderbilt University. Accessed January 22, 2021. http://hdl.handle.net/1803/10492.

MLA Handbook (7^th Edition):

Delahanty, Ryan James. “Towards an understanding of the role of chromosome 15q11-q13 in idiopathic autism.” 2010. Web. 22 Jan 2021.

Vancouver:

Delahanty RJ. Towards an understanding of the role of chromosome 15q11-q13 in idiopathic autism. [Internet] [Doctoral dissertation]. Vanderbilt University; 2010. [cited 2021 Jan 22]. Available from: http://hdl.handle.net/1803/10492.

Council of Science Editors:

Delahanty RJ. Towards an understanding of the role of chromosome 15q11-q13 in idiopathic autism. [Doctoral Dissertation]. Vanderbilt University; 2010. Available from: http://hdl.handle.net/1803/10492

		in
And / Or
		in
And / Or
		in
And / Or
		in

Open Access Theses and Dissertations