Advanced search options

Advanced Search Options 🞨

Browse by author name (“Author name starts with…”).

Find ETDs with:

in
/  
in
/  
in
/  
in

Written in Published in Earliest date Latest date

Sorted by

Results per page:

Sorted by: relevance · author · university · dateNew search

You searched for subject:(whole exome sequencing). Showing records 1 – 30 of 119 total matches.

[1] [2] [3] [4]

Search Limiters

Last 2 Years | English Only

Degrees

Levels

Languages

Country

▼ Search Limiters


University of Iowa

1. Cox, Allison Jeanne. Whole exome analysis of individuals and families with chronic recurrent multifocal osteomyelitis (CRMO).

Degree: PhD, Genetics, 2016, University of Iowa

  Chronic recurrent multifocal osteomyelitis (CRMO) is a rare, pediatric, autoinflammatory disease characterized by bone pain due to sterile osteomyelitis, and is often accompanied by… (more)

Subjects/Keywords: bone; inflammation; whole exome sequencing; Genetics

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Cox, A. J. (2016). Whole exome analysis of individuals and families with chronic recurrent multifocal osteomyelitis (CRMO). (Doctoral Dissertation). University of Iowa. Retrieved from https://ir.uiowa.edu/etd/2199

Chicago Manual of Style (16th Edition):

Cox, Allison Jeanne. “Whole exome analysis of individuals and families with chronic recurrent multifocal osteomyelitis (CRMO).” 2016. Doctoral Dissertation, University of Iowa. Accessed January 15, 2021. https://ir.uiowa.edu/etd/2199.

MLA Handbook (7th Edition):

Cox, Allison Jeanne. “Whole exome analysis of individuals and families with chronic recurrent multifocal osteomyelitis (CRMO).” 2016. Web. 15 Jan 2021.

Vancouver:

Cox AJ. Whole exome analysis of individuals and families with chronic recurrent multifocal osteomyelitis (CRMO). [Internet] [Doctoral dissertation]. University of Iowa; 2016. [cited 2021 Jan 15]. Available from: https://ir.uiowa.edu/etd/2199.

Council of Science Editors:

Cox AJ. Whole exome analysis of individuals and families with chronic recurrent multifocal osteomyelitis (CRMO). [Doctoral Dissertation]. University of Iowa; 2016. Available from: https://ir.uiowa.edu/etd/2199


University of Helsinki

2. Hinterding, Helena. Novel disease genes for childhood-onset cardiomyopathy.

Degree: Medicinska fakulteten, 2018, University of Helsinki

 Early-onset cardiomyopathies (CMPs) are disorders that bring a heavy burden for families as they often lead to early death among children. CMP may be defined… (more)

Subjects/Keywords: Cardiomyopathy; whole-exome sequencing; TMOD1; NRAP; PGM5; Cardiomyopathy; whole-exome sequencing; TMOD1; NRAP; PGM5

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Hinterding, H. (2018). Novel disease genes for childhood-onset cardiomyopathy. (Masters Thesis). University of Helsinki. Retrieved from http://hdl.handle.net/10138/236385

Chicago Manual of Style (16th Edition):

Hinterding, Helena. “Novel disease genes for childhood-onset cardiomyopathy.” 2018. Masters Thesis, University of Helsinki. Accessed January 15, 2021. http://hdl.handle.net/10138/236385.

MLA Handbook (7th Edition):

Hinterding, Helena. “Novel disease genes for childhood-onset cardiomyopathy.” 2018. Web. 15 Jan 2021.

Vancouver:

Hinterding H. Novel disease genes for childhood-onset cardiomyopathy. [Internet] [Masters thesis]. University of Helsinki; 2018. [cited 2021 Jan 15]. Available from: http://hdl.handle.net/10138/236385.

Council of Science Editors:

Hinterding H. Novel disease genes for childhood-onset cardiomyopathy. [Masters Thesis]. University of Helsinki; 2018. Available from: http://hdl.handle.net/10138/236385


Washington University in St. Louis

3. Bailey, Matthew Hawkins. A tail of two PanCancer projects: Somatic variant identification and driver gene discovery using TCGA.

Degree: PhD, Biology & Biomedical Sciences (Human & Statistical Genetics), 2018, Washington University in St. Louis

  The implementation of next-generation genomic sequencing has exploded over the past dozen years. Large consortia, such as The Cancer Genome Atlas (TCGA); the International… (more)

Subjects/Keywords: Genomics, PanCancer, Whole exome sequencing, Whole genome sequencing; Bioinformatics; Genetics; Oncology

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Bailey, M. H. (2018). A tail of two PanCancer projects: Somatic variant identification and driver gene discovery using TCGA. (Doctoral Dissertation). Washington University in St. Louis. Retrieved from https://openscholarship.wustl.edu/art_sci_etds/1691

Chicago Manual of Style (16th Edition):

Bailey, Matthew Hawkins. “A tail of two PanCancer projects: Somatic variant identification and driver gene discovery using TCGA.” 2018. Doctoral Dissertation, Washington University in St. Louis. Accessed January 15, 2021. https://openscholarship.wustl.edu/art_sci_etds/1691.

MLA Handbook (7th Edition):

Bailey, Matthew Hawkins. “A tail of two PanCancer projects: Somatic variant identification and driver gene discovery using TCGA.” 2018. Web. 15 Jan 2021.

Vancouver:

Bailey MH. A tail of two PanCancer projects: Somatic variant identification and driver gene discovery using TCGA. [Internet] [Doctoral dissertation]. Washington University in St. Louis; 2018. [cited 2021 Jan 15]. Available from: https://openscholarship.wustl.edu/art_sci_etds/1691.

Council of Science Editors:

Bailey MH. A tail of two PanCancer projects: Somatic variant identification and driver gene discovery using TCGA. [Doctoral Dissertation]. Washington University in St. Louis; 2018. Available from: https://openscholarship.wustl.edu/art_sci_etds/1691


University of Cincinnati

4. Tolusso, Leandra K. Parental understanding of whole exome sequencing: A comparison of perceived and actual understanding.

Degree: MS, Medicine: Genetic Counseling, 2016, University of Cincinnati

Whole exome sequencing (WES), a genetic test that sequences the protein-coding DNA, is an integral tool in the diagnosis of suspected genetic conditions in pediatric… (more)

Subjects/Keywords: Genetics; Whole exome sequencing; Informed consent; Exome; Secondary findings; Incidental findings

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Tolusso, L. K. (2016). Parental understanding of whole exome sequencing: A comparison of perceived and actual understanding. (Masters Thesis). University of Cincinnati. Retrieved from http://rave.ohiolink.edu/etdc/view?acc_num=ucin1458814771

Chicago Manual of Style (16th Edition):

Tolusso, Leandra K. “Parental understanding of whole exome sequencing: A comparison of perceived and actual understanding.” 2016. Masters Thesis, University of Cincinnati. Accessed January 15, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1458814771.

MLA Handbook (7th Edition):

Tolusso, Leandra K. “Parental understanding of whole exome sequencing: A comparison of perceived and actual understanding.” 2016. Web. 15 Jan 2021.

Vancouver:

Tolusso LK. Parental understanding of whole exome sequencing: A comparison of perceived and actual understanding. [Internet] [Masters thesis]. University of Cincinnati; 2016. [cited 2021 Jan 15]. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1458814771.

Council of Science Editors:

Tolusso LK. Parental understanding of whole exome sequencing: A comparison of perceived and actual understanding. [Masters Thesis]. University of Cincinnati; 2016. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1458814771


Boston University

5. Dougherty, Kristen Elizabeth. Evaluation of Next-Generation Sequencing as a clinical and research modality in the diagnosis of hereditary breast cancer.

Degree: MS, Medical Sciences, 2015, Boston University

 Next-Generation Sequencing has opened the doors to nearly limitless amounts of genomic data, but the clinical utility of this data is not yet clear. From… (more)

Subjects/Keywords: Genetics; Breast cancer; Hereditary cancer; Whole exome sequencing; Next generation sequencing

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Dougherty, K. E. (2015). Evaluation of Next-Generation Sequencing as a clinical and research modality in the diagnosis of hereditary breast cancer. (Masters Thesis). Boston University. Retrieved from http://hdl.handle.net/2144/16120

Chicago Manual of Style (16th Edition):

Dougherty, Kristen Elizabeth. “Evaluation of Next-Generation Sequencing as a clinical and research modality in the diagnosis of hereditary breast cancer.” 2015. Masters Thesis, Boston University. Accessed January 15, 2021. http://hdl.handle.net/2144/16120.

MLA Handbook (7th Edition):

Dougherty, Kristen Elizabeth. “Evaluation of Next-Generation Sequencing as a clinical and research modality in the diagnosis of hereditary breast cancer.” 2015. Web. 15 Jan 2021.

Vancouver:

Dougherty KE. Evaluation of Next-Generation Sequencing as a clinical and research modality in the diagnosis of hereditary breast cancer. [Internet] [Masters thesis]. Boston University; 2015. [cited 2021 Jan 15]. Available from: http://hdl.handle.net/2144/16120.

Council of Science Editors:

Dougherty KE. Evaluation of Next-Generation Sequencing as a clinical and research modality in the diagnosis of hereditary breast cancer. [Masters Thesis]. Boston University; 2015. Available from: http://hdl.handle.net/2144/16120


Harvard University

6. Xu, Liwen. Targeted Next Generation Sequencing Approach Towards Improving Genetic Diagnosis of Limb Girdle Muscular Dystrophy.

Degree: Doctor of Medicine, 2018, Harvard University

Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of rare muscle disorders in which progressive skeletal muscle weakness and wasting affect primarily the shoulders, hips… (more)

Subjects/Keywords: Limb Girdle Muscular Dystrophies; Next Generation Sequencing; Whole Exome Sequencing

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Xu, L. (2018). Targeted Next Generation Sequencing Approach Towards Improving Genetic Diagnosis of Limb Girdle Muscular Dystrophy. (Doctoral Dissertation). Harvard University. Retrieved from http://nrs.harvard.edu/urn-3:HUL.InstRepos:41973492

Chicago Manual of Style (16th Edition):

Xu, Liwen. “Targeted Next Generation Sequencing Approach Towards Improving Genetic Diagnosis of Limb Girdle Muscular Dystrophy.” 2018. Doctoral Dissertation, Harvard University. Accessed January 15, 2021. http://nrs.harvard.edu/urn-3:HUL.InstRepos:41973492.

MLA Handbook (7th Edition):

Xu, Liwen. “Targeted Next Generation Sequencing Approach Towards Improving Genetic Diagnosis of Limb Girdle Muscular Dystrophy.” 2018. Web. 15 Jan 2021.

Vancouver:

Xu L. Targeted Next Generation Sequencing Approach Towards Improving Genetic Diagnosis of Limb Girdle Muscular Dystrophy. [Internet] [Doctoral dissertation]. Harvard University; 2018. [cited 2021 Jan 15]. Available from: http://nrs.harvard.edu/urn-3:HUL.InstRepos:41973492.

Council of Science Editors:

Xu L. Targeted Next Generation Sequencing Approach Towards Improving Genetic Diagnosis of Limb Girdle Muscular Dystrophy. [Doctoral Dissertation]. Harvard University; 2018. Available from: http://nrs.harvard.edu/urn-3:HUL.InstRepos:41973492


Universidade Estadual de Campinas

7. Borges, Murilo Guimarães, 1989-. Metodologias em bioinformática aplicadas à análise de dados de sequenciamento de alto desempenho em genética médica: Bioinformatics methodologies applied to high throughput sequencing analysis in medical genetics.

Degree: 2019, Universidade Estadual de Campinas

 Abstract: Next-generation sequencing is increasingly embedded in the clinical practice, bringing with it challenges as well. For diagnostic purposes, high-resolution sequencing methods are prioritized: either… (more)

Subjects/Keywords: Bioinformática; Sequenciamento completo de exoma; Exoma; Herança multifatorial; Bioinformatics; Whole exome sequencing; Exome; Polygenic inheritance

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Borges, Murilo Guimarães, 1. (2019). Metodologias em bioinformática aplicadas à análise de dados de sequenciamento de alto desempenho em genética médica: Bioinformatics methodologies applied to high throughput sequencing analysis in medical genetics. (Thesis). Universidade Estadual de Campinas. Retrieved from http://repositorio.unicamp.br/jspui/handle/REPOSIP/334837

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):

Borges, Murilo Guimarães, 1989-. “Metodologias em bioinformática aplicadas à análise de dados de sequenciamento de alto desempenho em genética médica: Bioinformatics methodologies applied to high throughput sequencing analysis in medical genetics.” 2019. Thesis, Universidade Estadual de Campinas. Accessed January 15, 2021. http://repositorio.unicamp.br/jspui/handle/REPOSIP/334837.

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

MLA Handbook (7th Edition):

Borges, Murilo Guimarães, 1989-. “Metodologias em bioinformática aplicadas à análise de dados de sequenciamento de alto desempenho em genética médica: Bioinformatics methodologies applied to high throughput sequencing analysis in medical genetics.” 2019. Web. 15 Jan 2021.

Vancouver:

Borges, Murilo Guimarães 1. Metodologias em bioinformática aplicadas à análise de dados de sequenciamento de alto desempenho em genética médica: Bioinformatics methodologies applied to high throughput sequencing analysis in medical genetics. [Internet] [Thesis]. Universidade Estadual de Campinas; 2019. [cited 2021 Jan 15]. Available from: http://repositorio.unicamp.br/jspui/handle/REPOSIP/334837.

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

Council of Science Editors:

Borges, Murilo Guimarães 1. Metodologias em bioinformática aplicadas à análise de dados de sequenciamento de alto desempenho em genética médica: Bioinformatics methodologies applied to high throughput sequencing analysis in medical genetics. [Thesis]. Universidade Estadual de Campinas; 2019. Available from: http://repositorio.unicamp.br/jspui/handle/REPOSIP/334837

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


Vanderbilt University

8. Jorge, Benjamin S. Genetic Variation in the Voltage-gated Potassium Channel Genes KCNV2 and KCNB1 Contributes to Epilepsy Susceptibility.

Degree: PhD, Neuroscience, 2014, Vanderbilt University

 Epilepsy is a common neurological disease characterized by an enduring predisposition to generate seizures. Although multiple factors contribute to epilepsy, the majority of cases are… (more)

Subjects/Keywords: potassium channel; epileptic encephalopathy; mouse model; genetics; whole-exome sequencing; epilepsy

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Jorge, B. S. (2014). Genetic Variation in the Voltage-gated Potassium Channel Genes KCNV2 and KCNB1 Contributes to Epilepsy Susceptibility. (Doctoral Dissertation). Vanderbilt University. Retrieved from http://hdl.handle.net/1803/14387

Chicago Manual of Style (16th Edition):

Jorge, Benjamin S. “Genetic Variation in the Voltage-gated Potassium Channel Genes KCNV2 and KCNB1 Contributes to Epilepsy Susceptibility.” 2014. Doctoral Dissertation, Vanderbilt University. Accessed January 15, 2021. http://hdl.handle.net/1803/14387.

MLA Handbook (7th Edition):

Jorge, Benjamin S. “Genetic Variation in the Voltage-gated Potassium Channel Genes KCNV2 and KCNB1 Contributes to Epilepsy Susceptibility.” 2014. Web. 15 Jan 2021.

Vancouver:

Jorge BS. Genetic Variation in the Voltage-gated Potassium Channel Genes KCNV2 and KCNB1 Contributes to Epilepsy Susceptibility. [Internet] [Doctoral dissertation]. Vanderbilt University; 2014. [cited 2021 Jan 15]. Available from: http://hdl.handle.net/1803/14387.

Council of Science Editors:

Jorge BS. Genetic Variation in the Voltage-gated Potassium Channel Genes KCNV2 and KCNB1 Contributes to Epilepsy Susceptibility. [Doctoral Dissertation]. Vanderbilt University; 2014. Available from: http://hdl.handle.net/1803/14387


Virginia Commonwealth University

9. Rymer, Karen. Identification of Candidate Genes for Craniosynostosis.

Degree: MS, Human Genetics, 2015, Virginia Commonwealth University

  Craniosynostosis is a disorder characterized by the premature fusing of cranial sutures in an infant. Premature closure of these sutures can lead to detrimental… (more)

Subjects/Keywords: craniosynostosis; skull; whole exome sequencing; suture; Diseases; Medicine and Health Sciences

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Rymer, K. (2015). Identification of Candidate Genes for Craniosynostosis. (Thesis). Virginia Commonwealth University. Retrieved from https://doi.org/10.25772/84CF-M543 ; https://scholarscompass.vcu.edu/etd/3782

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):

Rymer, Karen. “Identification of Candidate Genes for Craniosynostosis.” 2015. Thesis, Virginia Commonwealth University. Accessed January 15, 2021. https://doi.org/10.25772/84CF-M543 ; https://scholarscompass.vcu.edu/etd/3782.

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

MLA Handbook (7th Edition):

Rymer, Karen. “Identification of Candidate Genes for Craniosynostosis.” 2015. Web. 15 Jan 2021.

Vancouver:

Rymer K. Identification of Candidate Genes for Craniosynostosis. [Internet] [Thesis]. Virginia Commonwealth University; 2015. [cited 2021 Jan 15]. Available from: https://doi.org/10.25772/84CF-M543 ; https://scholarscompass.vcu.edu/etd/3782.

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

Council of Science Editors:

Rymer K. Identification of Candidate Genes for Craniosynostosis. [Thesis]. Virginia Commonwealth University; 2015. Available from: https://doi.org/10.25772/84CF-M543 ; https://scholarscompass.vcu.edu/etd/3782

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

10. M. Robusto. INHERITED HEARING LOSS: FROM GENE VARIANTS TO MECHANISMS OF DISEASE.

Degree: 2014, Università degli Studi di Milano

 Nonsyndromic Sensorineural Hearing Loss (NSHL) is the most common sensory disorder worldwide, affecting at least 1 in 500 newborns and more than half individuals older… (more)

Subjects/Keywords: NSHL; miR-96; whole exome sequencing; Settore BIO/13 - Biologia Applicata

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Robusto, M. (2014). INHERITED HEARING LOSS: FROM GENE VARIANTS TO MECHANISMS OF DISEASE. (Thesis). Università degli Studi di Milano. Retrieved from http://hdl.handle.net/2434/229902

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):

Robusto, M.. “INHERITED HEARING LOSS: FROM GENE VARIANTS TO MECHANISMS OF DISEASE.” 2014. Thesis, Università degli Studi di Milano. Accessed January 15, 2021. http://hdl.handle.net/2434/229902.

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

MLA Handbook (7th Edition):

Robusto, M.. “INHERITED HEARING LOSS: FROM GENE VARIANTS TO MECHANISMS OF DISEASE.” 2014. Web. 15 Jan 2021.

Vancouver:

Robusto M. INHERITED HEARING LOSS: FROM GENE VARIANTS TO MECHANISMS OF DISEASE. [Internet] [Thesis]. Università degli Studi di Milano; 2014. [cited 2021 Jan 15]. Available from: http://hdl.handle.net/2434/229902.

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

Council of Science Editors:

Robusto M. INHERITED HEARING LOSS: FROM GENE VARIANTS TO MECHANISMS OF DISEASE. [Thesis]. Università degli Studi di Milano; 2014. Available from: http://hdl.handle.net/2434/229902

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


University of Miami

11. Bis-Brewer, Dana Marie. Identifying the Genetic Architecture and Cellular Pathways of Inherited Axonopathies.

Degree: PhD, Human Genetics and Genomics (Medicine), 2019, University of Miami

  Inherited axonopathies are a group of disorders unified by a common pathological mechanism: length-dependent axonal degeneration. Progressive axonal degeneration can lead to both Charcot-Marie-Tooth… (more)

Subjects/Keywords: Mendelian genetics; bioinformatics; risk alleles; network analysis; whole-exome sequencing

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Bis-Brewer, D. M. (2019). Identifying the Genetic Architecture and Cellular Pathways of Inherited Axonopathies. (Doctoral Dissertation). University of Miami. Retrieved from https://scholarlyrepository.miami.edu/oa_dissertations/2364

Chicago Manual of Style (16th Edition):

Bis-Brewer, Dana Marie. “Identifying the Genetic Architecture and Cellular Pathways of Inherited Axonopathies.” 2019. Doctoral Dissertation, University of Miami. Accessed January 15, 2021. https://scholarlyrepository.miami.edu/oa_dissertations/2364.

MLA Handbook (7th Edition):

Bis-Brewer, Dana Marie. “Identifying the Genetic Architecture and Cellular Pathways of Inherited Axonopathies.” 2019. Web. 15 Jan 2021.

Vancouver:

Bis-Brewer DM. Identifying the Genetic Architecture and Cellular Pathways of Inherited Axonopathies. [Internet] [Doctoral dissertation]. University of Miami; 2019. [cited 2021 Jan 15]. Available from: https://scholarlyrepository.miami.edu/oa_dissertations/2364.

Council of Science Editors:

Bis-Brewer DM. Identifying the Genetic Architecture and Cellular Pathways of Inherited Axonopathies. [Doctoral Dissertation]. University of Miami; 2019. Available from: https://scholarlyrepository.miami.edu/oa_dissertations/2364


University of Melbourne

12. Perucca, Piero Cesare. The role of genetic factors in the aetiology of focal epilepsy and in the outcomes of epilepsy treatment.

Degree: 2017, University of Melbourne

 Epilepsy is one of the most common neurological disorders, affecting people of all ages, races, social classes, and nationalities. It is characterised by an enduring… (more)

Subjects/Keywords: Epilepsy; Focal; Genetics; Genetic testing; Whole exome sequencing; Temporal lobe epilepsy

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Perucca, P. C. (2017). The role of genetic factors in the aetiology of focal epilepsy and in the outcomes of epilepsy treatment. (Doctoral Dissertation). University of Melbourne. Retrieved from http://hdl.handle.net/11343/194133

Chicago Manual of Style (16th Edition):

Perucca, Piero Cesare. “The role of genetic factors in the aetiology of focal epilepsy and in the outcomes of epilepsy treatment.” 2017. Doctoral Dissertation, University of Melbourne. Accessed January 15, 2021. http://hdl.handle.net/11343/194133.

MLA Handbook (7th Edition):

Perucca, Piero Cesare. “The role of genetic factors in the aetiology of focal epilepsy and in the outcomes of epilepsy treatment.” 2017. Web. 15 Jan 2021.

Vancouver:

Perucca PC. The role of genetic factors in the aetiology of focal epilepsy and in the outcomes of epilepsy treatment. [Internet] [Doctoral dissertation]. University of Melbourne; 2017. [cited 2021 Jan 15]. Available from: http://hdl.handle.net/11343/194133.

Council of Science Editors:

Perucca PC. The role of genetic factors in the aetiology of focal epilepsy and in the outcomes of epilepsy treatment. [Doctoral Dissertation]. University of Melbourne; 2017. Available from: http://hdl.handle.net/11343/194133

13. Broeckx, Bart. Canine whole exome sequencing : hip, hip, hurray?: the quest for genetic solutions for phenotypical problems.

Degree: 2015, Ghent University

 De hond is reeds duizenden jaren onze metgezel en heeft een opmerkelijke fenotypische diversiteit. De processen die tot deze diversiteit hebben geleid, hebben er echter… (more)

Subjects/Keywords: Biology and Life Sciences; canine; Whole exome sequencing

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Broeckx, B. (2015). Canine whole exome sequencing : hip, hip, hurray?: the quest for genetic solutions for phenotypical problems. (Thesis). Ghent University. Retrieved from http://hdl.handle.net/1854/LU-7017253

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):

Broeckx, Bart. “Canine whole exome sequencing : hip, hip, hurray?: the quest for genetic solutions for phenotypical problems.” 2015. Thesis, Ghent University. Accessed January 15, 2021. http://hdl.handle.net/1854/LU-7017253.

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

MLA Handbook (7th Edition):

Broeckx, Bart. “Canine whole exome sequencing : hip, hip, hurray?: the quest for genetic solutions for phenotypical problems.” 2015. Web. 15 Jan 2021.

Vancouver:

Broeckx B. Canine whole exome sequencing : hip, hip, hurray?: the quest for genetic solutions for phenotypical problems. [Internet] [Thesis]. Ghent University; 2015. [cited 2021 Jan 15]. Available from: http://hdl.handle.net/1854/LU-7017253.

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

Council of Science Editors:

Broeckx B. Canine whole exome sequencing : hip, hip, hurray?: the quest for genetic solutions for phenotypical problems. [Thesis]. Ghent University; 2015. Available from: http://hdl.handle.net/1854/LU-7017253

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


University of New South Wales

14. Palmer, Elizabeth. Application of massively parallel sequencing for the diagnosis of developmental and epileptic encephalopathies.

Degree: Women's & Children's Health, 2019, University of New South Wales

 Developmental and Epileptic Encephalopathies (DEE) are characterised by severe early-onset seizures and have poor developmental outcomes, significant co-morbidities, premature mortality and substantial psychosocial and economic… (more)

Subjects/Keywords: Epileptic encephalopathy; Genomics; Epilepsy; Exome; Whole genome sequencing

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Palmer, E. (2019). Application of massively parallel sequencing for the diagnosis of developmental and epileptic encephalopathies. (Doctoral Dissertation). University of New South Wales. Retrieved from http://handle.unsw.edu.au/1959.4/64866

Chicago Manual of Style (16th Edition):

Palmer, Elizabeth. “Application of massively parallel sequencing for the diagnosis of developmental and epileptic encephalopathies.” 2019. Doctoral Dissertation, University of New South Wales. Accessed January 15, 2021. http://handle.unsw.edu.au/1959.4/64866.

MLA Handbook (7th Edition):

Palmer, Elizabeth. “Application of massively parallel sequencing for the diagnosis of developmental and epileptic encephalopathies.” 2019. Web. 15 Jan 2021.

Vancouver:

Palmer E. Application of massively parallel sequencing for the diagnosis of developmental and epileptic encephalopathies. [Internet] [Doctoral dissertation]. University of New South Wales; 2019. [cited 2021 Jan 15]. Available from: http://handle.unsw.edu.au/1959.4/64866.

Council of Science Editors:

Palmer E. Application of massively parallel sequencing for the diagnosis of developmental and epileptic encephalopathies. [Doctoral Dissertation]. University of New South Wales; 2019. Available from: http://handle.unsw.edu.au/1959.4/64866


University of Cincinnati

15. Fisher, Rachel. Clinical whole exome sequencing in an academic pediatric hospital: A descriptive study of the diagnostic odyssey.

Degree: MS, Medicine: Genetic Counseling, 2015, University of Cincinnati

 Background: Whole exome sequencing (WES) is a genetic test that sequences all protein-coding regions, exons, in a patient’s genome. WES is used to identify disease… (more)

Subjects/Keywords: Genetics; Whole exome sequencing; Diagnostic odyssey; genetic testing

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Fisher, R. (2015). Clinical whole exome sequencing in an academic pediatric hospital: A descriptive study of the diagnostic odyssey. (Masters Thesis). University of Cincinnati. Retrieved from http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427813369

Chicago Manual of Style (16th Edition):

Fisher, Rachel. “Clinical whole exome sequencing in an academic pediatric hospital: A descriptive study of the diagnostic odyssey.” 2015. Masters Thesis, University of Cincinnati. Accessed January 15, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427813369.

MLA Handbook (7th Edition):

Fisher, Rachel. “Clinical whole exome sequencing in an academic pediatric hospital: A descriptive study of the diagnostic odyssey.” 2015. Web. 15 Jan 2021.

Vancouver:

Fisher R. Clinical whole exome sequencing in an academic pediatric hospital: A descriptive study of the diagnostic odyssey. [Internet] [Masters thesis]. University of Cincinnati; 2015. [cited 2021 Jan 15]. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427813369.

Council of Science Editors:

Fisher R. Clinical whole exome sequencing in an academic pediatric hospital: A descriptive study of the diagnostic odyssey. [Masters Thesis]. University of Cincinnati; 2015. Available from: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427813369


University of Pennsylvania

16. Bryant, Laura Mary. Genetics And Retinal Degeneration: Challenges In Optogenetic Therapy And Indentifying Pathogenic Variants.

Degree: 2017, University of Pennsylvania

 Inherited retinal degenerative diseases are one of the leading causes of childhood blindness. While over 200 causative genes have been identified, many cases still have… (more)

Subjects/Keywords: GRM6; PRPF31; Retinal Degeneration; SEMA4A; Whole Exome Sequencing; Genetics; Ophthalmology

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Bryant, L. M. (2017). Genetics And Retinal Degeneration: Challenges In Optogenetic Therapy And Indentifying Pathogenic Variants. (Thesis). University of Pennsylvania. Retrieved from https://repository.upenn.edu/edissertations/2988

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):

Bryant, Laura Mary. “Genetics And Retinal Degeneration: Challenges In Optogenetic Therapy And Indentifying Pathogenic Variants.” 2017. Thesis, University of Pennsylvania. Accessed January 15, 2021. https://repository.upenn.edu/edissertations/2988.

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

MLA Handbook (7th Edition):

Bryant, Laura Mary. “Genetics And Retinal Degeneration: Challenges In Optogenetic Therapy And Indentifying Pathogenic Variants.” 2017. Web. 15 Jan 2021.

Vancouver:

Bryant LM. Genetics And Retinal Degeneration: Challenges In Optogenetic Therapy And Indentifying Pathogenic Variants. [Internet] [Thesis]. University of Pennsylvania; 2017. [cited 2021 Jan 15]. Available from: https://repository.upenn.edu/edissertations/2988.

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

Council of Science Editors:

Bryant LM. Genetics And Retinal Degeneration: Challenges In Optogenetic Therapy And Indentifying Pathogenic Variants. [Thesis]. University of Pennsylvania; 2017. Available from: https://repository.upenn.edu/edissertations/2988

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


Queensland University of Technology

17. Maksemous, Neven. Development of high through-put neurogenetics diagnostics.

Degree: 2016, Queensland University of Technology

 This project was an effort to improve the speed and affordability of genetic testing for neurological disorders. The research involved the development of a genetic… (more)

Subjects/Keywords: Next generation sequencing; Familial hemiplegic migraine; Episodic Ataxia Type 2; CADASIL; Whole Exome Sequencing

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Maksemous, N. (2016). Development of high through-put neurogenetics diagnostics. (Thesis). Queensland University of Technology. Retrieved from http://eprints.qut.edu.au/101097/

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):

Maksemous, Neven. “Development of high through-put neurogenetics diagnostics.” 2016. Thesis, Queensland University of Technology. Accessed January 15, 2021. http://eprints.qut.edu.au/101097/.

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

MLA Handbook (7th Edition):

Maksemous, Neven. “Development of high through-put neurogenetics diagnostics.” 2016. Web. 15 Jan 2021.

Vancouver:

Maksemous N. Development of high through-put neurogenetics diagnostics. [Internet] [Thesis]. Queensland University of Technology; 2016. [cited 2021 Jan 15]. Available from: http://eprints.qut.edu.au/101097/.

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

Council of Science Editors:

Maksemous N. Development of high through-put neurogenetics diagnostics. [Thesis]. Queensland University of Technology; 2016. Available from: http://eprints.qut.edu.au/101097/

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


University of Ottawa

18. Wagner, Justin. Whole Exome Sequencing to Identify Disease-Causing Mutations in Lower Motor Neuron Disease and Peripheral Neuropathy .

Degree: 2016, University of Ottawa

 Lower motor neuron diseases and peripheral neuropathies are two groups of diseases that include multiple rare disorders where many causes are unknown and definitive treatments… (more)

Subjects/Keywords: Charcot-Marie-Tooth; Next Generation Sequencing; Whole-Exome Sequencing; Peripheral Neuropathy; Lower Motor Neuron Disease

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Wagner, J. (2016). Whole Exome Sequencing to Identify Disease-Causing Mutations in Lower Motor Neuron Disease and Peripheral Neuropathy . (Thesis). University of Ottawa. Retrieved from http://hdl.handle.net/10393/34124

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):

Wagner, Justin. “Whole Exome Sequencing to Identify Disease-Causing Mutations in Lower Motor Neuron Disease and Peripheral Neuropathy .” 2016. Thesis, University of Ottawa. Accessed January 15, 2021. http://hdl.handle.net/10393/34124.

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

MLA Handbook (7th Edition):

Wagner, Justin. “Whole Exome Sequencing to Identify Disease-Causing Mutations in Lower Motor Neuron Disease and Peripheral Neuropathy .” 2016. Web. 15 Jan 2021.

Vancouver:

Wagner J. Whole Exome Sequencing to Identify Disease-Causing Mutations in Lower Motor Neuron Disease and Peripheral Neuropathy . [Internet] [Thesis]. University of Ottawa; 2016. [cited 2021 Jan 15]. Available from: http://hdl.handle.net/10393/34124.

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

Council of Science Editors:

Wagner J. Whole Exome Sequencing to Identify Disease-Causing Mutations in Lower Motor Neuron Disease and Peripheral Neuropathy . [Thesis]. University of Ottawa; 2016. Available from: http://hdl.handle.net/10393/34124

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

19. G.E.M. Melloni. COMPUTATIONAL FRAMEWORKS FOR THE IDENTIFICATION OF SOMATIC AND GERMLINE VARIANTS CONTRIBUTING TO CANCER PREDISPOSITION AND DEVELOPMENT.

Degree: 2017, Università degli Studi di Milano

 The most recent cancer classification from NIH includes ~200 types of tumor that originates from several tissue types (http://www.cancer.gov/types). Although macroscopic and microscopic characteristics varies… (more)

Subjects/Keywords: Somatic Mutations; Germline Mutations; Next Generation Sequencing; Whole Exome Sequencing; Settore MED/04 - Patologia Generale

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Melloni, G. (2017). COMPUTATIONAL FRAMEWORKS FOR THE IDENTIFICATION OF SOMATIC AND GERMLINE VARIANTS CONTRIBUTING TO CANCER PREDISPOSITION AND DEVELOPMENT. (Thesis). Università degli Studi di Milano. Retrieved from http://hdl.handle.net/2434/462986

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):

Melloni, G.E.M.. “COMPUTATIONAL FRAMEWORKS FOR THE IDENTIFICATION OF SOMATIC AND GERMLINE VARIANTS CONTRIBUTING TO CANCER PREDISPOSITION AND DEVELOPMENT.” 2017. Thesis, Università degli Studi di Milano. Accessed January 15, 2021. http://hdl.handle.net/2434/462986.

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

MLA Handbook (7th Edition):

Melloni, G.E.M.. “COMPUTATIONAL FRAMEWORKS FOR THE IDENTIFICATION OF SOMATIC AND GERMLINE VARIANTS CONTRIBUTING TO CANCER PREDISPOSITION AND DEVELOPMENT.” 2017. Web. 15 Jan 2021.

Vancouver:

Melloni G. COMPUTATIONAL FRAMEWORKS FOR THE IDENTIFICATION OF SOMATIC AND GERMLINE VARIANTS CONTRIBUTING TO CANCER PREDISPOSITION AND DEVELOPMENT. [Internet] [Thesis]. Università degli Studi di Milano; 2017. [cited 2021 Jan 15]. Available from: http://hdl.handle.net/2434/462986.

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

Council of Science Editors:

Melloni G. COMPUTATIONAL FRAMEWORKS FOR THE IDENTIFICATION OF SOMATIC AND GERMLINE VARIANTS CONTRIBUTING TO CANCER PREDISPOSITION AND DEVELOPMENT. [Thesis]. Università degli Studi di Milano; 2017. Available from: http://hdl.handle.net/2434/462986

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


University of Sydney

20. Ghaoui, Roula. The application of whole exome sequencing for the diagnosis of limb-girdle muscular dystrophies .

Degree: 2016, University of Sydney

 The limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of inherited muscle disorders characterized by progressive weakness and wasting that primarily affects the proximal muscle… (more)

Subjects/Keywords: muscular dystrophy; myopathy; limb girdle; genetics; whole exome sequencing; next generation sequencing

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Ghaoui, R. (2016). The application of whole exome sequencing for the diagnosis of limb-girdle muscular dystrophies . (Thesis). University of Sydney. Retrieved from http://hdl.handle.net/2123/16358

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):

Ghaoui, Roula. “The application of whole exome sequencing for the diagnosis of limb-girdle muscular dystrophies .” 2016. Thesis, University of Sydney. Accessed January 15, 2021. http://hdl.handle.net/2123/16358.

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

MLA Handbook (7th Edition):

Ghaoui, Roula. “The application of whole exome sequencing for the diagnosis of limb-girdle muscular dystrophies .” 2016. Web. 15 Jan 2021.

Vancouver:

Ghaoui R. The application of whole exome sequencing for the diagnosis of limb-girdle muscular dystrophies . [Internet] [Thesis]. University of Sydney; 2016. [cited 2021 Jan 15]. Available from: http://hdl.handle.net/2123/16358.

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

Council of Science Editors:

Ghaoui R. The application of whole exome sequencing for the diagnosis of limb-girdle muscular dystrophies . [Thesis]. University of Sydney; 2016. Available from: http://hdl.handle.net/2123/16358

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


University of Sydney

21. O'Grady, Gina Louise. Improving the Diagnosis of Congenital Muscular Dystrophy with Next Generation Sequencing Technology .

Degree: 2016, University of Sydney

 The congenital muscular dystrophies (CMDs) are inherited disorders of skeletal muscle characterized by early onset muscle weakness and dystrophic changes on muscle biopsy. The traditional… (more)

Subjects/Keywords: Congenital muscular dystrophy; Congenital myopathy; Neuromuscular disease; Next generation sequencing; Whole exome sequencing

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

O'Grady, G. L. (2016). Improving the Diagnosis of Congenital Muscular Dystrophy with Next Generation Sequencing Technology . (Thesis). University of Sydney. Retrieved from http://hdl.handle.net/2123/16490

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):

O'Grady, Gina Louise. “Improving the Diagnosis of Congenital Muscular Dystrophy with Next Generation Sequencing Technology .” 2016. Thesis, University of Sydney. Accessed January 15, 2021. http://hdl.handle.net/2123/16490.

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

MLA Handbook (7th Edition):

O'Grady, Gina Louise. “Improving the Diagnosis of Congenital Muscular Dystrophy with Next Generation Sequencing Technology .” 2016. Web. 15 Jan 2021.

Vancouver:

O'Grady GL. Improving the Diagnosis of Congenital Muscular Dystrophy with Next Generation Sequencing Technology . [Internet] [Thesis]. University of Sydney; 2016. [cited 2021 Jan 15]. Available from: http://hdl.handle.net/2123/16490.

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

Council of Science Editors:

O'Grady GL. Improving the Diagnosis of Congenital Muscular Dystrophy with Next Generation Sequencing Technology . [Thesis]. University of Sydney; 2016. Available from: http://hdl.handle.net/2123/16490

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


Penn State University

22. Wang, Qingyu. Evaluation of whole exome sequencing technology in cohort dataset and quantification of phenotypic alterations in a model organism.

Degree: 2016, Penn State University

 This dissertation outlines bioinformatics approaches to improve genotypic and phenotypic analysis of disease variants. The first study is focused on improving the Whole Exome Sequencing(more)

Subjects/Keywords: Whole Exome Sequencing; low coverage; unevenness; Drosophila melanogaster; eye phenotype; image processing; quantitative assessment

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Wang, Q. (2016). Evaluation of whole exome sequencing technology in cohort dataset and quantification of phenotypic alterations in a model organism. (Thesis). Penn State University. Retrieved from https://submit-etda.libraries.psu.edu/catalog/28696

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):

Wang, Qingyu. “Evaluation of whole exome sequencing technology in cohort dataset and quantification of phenotypic alterations in a model organism.” 2016. Thesis, Penn State University. Accessed January 15, 2021. https://submit-etda.libraries.psu.edu/catalog/28696.

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

MLA Handbook (7th Edition):

Wang, Qingyu. “Evaluation of whole exome sequencing technology in cohort dataset and quantification of phenotypic alterations in a model organism.” 2016. Web. 15 Jan 2021.

Vancouver:

Wang Q. Evaluation of whole exome sequencing technology in cohort dataset and quantification of phenotypic alterations in a model organism. [Internet] [Thesis]. Penn State University; 2016. [cited 2021 Jan 15]. Available from: https://submit-etda.libraries.psu.edu/catalog/28696.

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

Council of Science Editors:

Wang Q. Evaluation of whole exome sequencing technology in cohort dataset and quantification of phenotypic alterations in a model organism. [Thesis]. Penn State University; 2016. Available from: https://submit-etda.libraries.psu.edu/catalog/28696

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


University of Toronto

23. Hossain, Khalid. Novel Tripartite Motif Containing 22 Interactions in the Context of Very Early Onset Inflammatory Bowel Disease.

Degree: 2018, University of Toronto

Genetics predominate in very early onset inflammatory bowel disease (VEOIBD). With poor outcomes and therapeutic response, monogenic causes revealed by whole exome sequencing has potential… (more)

Subjects/Keywords: E3 Ubiquitin Ligase; HDAC1; Inflammatory Bowel Disease; Paediatric; TRIM22; Whole Exome Sequencing; 0379

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Hossain, K. (2018). Novel Tripartite Motif Containing 22 Interactions in the Context of Very Early Onset Inflammatory Bowel Disease. (Masters Thesis). University of Toronto. Retrieved from http://hdl.handle.net/1807/91336

Chicago Manual of Style (16th Edition):

Hossain, Khalid. “Novel Tripartite Motif Containing 22 Interactions in the Context of Very Early Onset Inflammatory Bowel Disease.” 2018. Masters Thesis, University of Toronto. Accessed January 15, 2021. http://hdl.handle.net/1807/91336.

MLA Handbook (7th Edition):

Hossain, Khalid. “Novel Tripartite Motif Containing 22 Interactions in the Context of Very Early Onset Inflammatory Bowel Disease.” 2018. Web. 15 Jan 2021.

Vancouver:

Hossain K. Novel Tripartite Motif Containing 22 Interactions in the Context of Very Early Onset Inflammatory Bowel Disease. [Internet] [Masters thesis]. University of Toronto; 2018. [cited 2021 Jan 15]. Available from: http://hdl.handle.net/1807/91336.

Council of Science Editors:

Hossain K. Novel Tripartite Motif Containing 22 Interactions in the Context of Very Early Onset Inflammatory Bowel Disease. [Masters Thesis]. University of Toronto; 2018. Available from: http://hdl.handle.net/1807/91336


Texas Medical Center

24. Lu, Mingyao. Improving dbNSFP.

Degree: MS, 2018, Texas Medical Center

  IMPROVING dbNSFP Mingyao Lu, B.S. Advisory Professor: Xiaoming Liu, Ph.D. The analysis and interpretation of DNA variation are very important for the Whole Exome(more)

Subjects/Keywords: Indels Annotation; Functional Annotation; Whole Exome Sequencing; Deleterious Prediction Scores; Bioinformatics; Computational Biology; Genomics

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Lu, M. (2018). Improving dbNSFP. (Thesis). Texas Medical Center. Retrieved from https://digitalcommons.library.tmc.edu/utgsbs_dissertations/920

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):

Lu, Mingyao. “Improving dbNSFP.” 2018. Thesis, Texas Medical Center. Accessed January 15, 2021. https://digitalcommons.library.tmc.edu/utgsbs_dissertations/920.

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

MLA Handbook (7th Edition):

Lu, Mingyao. “Improving dbNSFP.” 2018. Web. 15 Jan 2021.

Vancouver:

Lu M. Improving dbNSFP. [Internet] [Thesis]. Texas Medical Center; 2018. [cited 2021 Jan 15]. Available from: https://digitalcommons.library.tmc.edu/utgsbs_dissertations/920.

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

Council of Science Editors:

Lu M. Improving dbNSFP. [Thesis]. Texas Medical Center; 2018. Available from: https://digitalcommons.library.tmc.edu/utgsbs_dissertations/920

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

25. 이, 종빈. A novel compound heterozygous NEB mutationin Korean patients with intellectual disability, epilepsy,and acongenital myopathy.

Degree: 2014, Ajou University

I examined a Korean family with complex phenotypes characterized by intellectualdisability,epilepsy,and generalized muscle weakness of early childhood onset. I performed several conventional genetic tests to… (more)

Subjects/Keywords: congenital myopathy; epilepsy; intellectual disability; quadriplegia; whole exome sequencing; mutation; NEB gene; nebulin

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

이, . (2014). A novel compound heterozygous NEB mutationin Korean patients with intellectual disability, epilepsy,and acongenital myopathy. (Thesis). Ajou University. Retrieved from http://repository.ajou.ac.kr/handle/201003/10933 ; http://dcoll.ajou.ac.kr:9080/dcollection/jsp/common/DcLoOrgPer.jsp?sItemId=000000017654

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):

이, 종빈. “A novel compound heterozygous NEB mutationin Korean patients with intellectual disability, epilepsy,and acongenital myopathy.” 2014. Thesis, Ajou University. Accessed January 15, 2021. http://repository.ajou.ac.kr/handle/201003/10933 ; http://dcoll.ajou.ac.kr:9080/dcollection/jsp/common/DcLoOrgPer.jsp?sItemId=000000017654.

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

MLA Handbook (7th Edition):

이, 종빈. “A novel compound heterozygous NEB mutationin Korean patients with intellectual disability, epilepsy,and acongenital myopathy.” 2014. Web. 15 Jan 2021.

Vancouver:

이 . A novel compound heterozygous NEB mutationin Korean patients with intellectual disability, epilepsy,and acongenital myopathy. [Internet] [Thesis]. Ajou University; 2014. [cited 2021 Jan 15]. Available from: http://repository.ajou.ac.kr/handle/201003/10933 ; http://dcoll.ajou.ac.kr:9080/dcollection/jsp/common/DcLoOrgPer.jsp?sItemId=000000017654.

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

Council of Science Editors:

이 . A novel compound heterozygous NEB mutationin Korean patients with intellectual disability, epilepsy,and acongenital myopathy. [Thesis]. Ajou University; 2014. Available from: http://repository.ajou.ac.kr/handle/201003/10933 ; http://dcoll.ajou.ac.kr:9080/dcollection/jsp/common/DcLoOrgPer.jsp?sItemId=000000017654

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


University of Oulu

26. Skarp, S. (Sini). Whole exome sequencing in identifying genetic factors in musculoskeletal diseases.

Degree: 2019, University of Oulu

Abstract Musculoskeletal diseases, such as osteoarthritis (OA), lumbar disc degeneration (LDD) and osteoporosis (OP), are common complex disorders affected by both environmental and genetic factors.… (more)

Subjects/Keywords: disc degeneration; genetics; osteoarthritis; osteoporosis; whole exome sequencing; eksomisekvensointi; genetiikka; nivelrikko; osteoporoosi; välilevyn rappeuma

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Skarp, S. (. (2019). Whole exome sequencing in identifying genetic factors in musculoskeletal diseases. (Doctoral Dissertation). University of Oulu. Retrieved from http://urn.fi/urn:isbn:9789526223315

Chicago Manual of Style (16th Edition):

Skarp, S (Sini). “Whole exome sequencing in identifying genetic factors in musculoskeletal diseases.” 2019. Doctoral Dissertation, University of Oulu. Accessed January 15, 2021. http://urn.fi/urn:isbn:9789526223315.

MLA Handbook (7th Edition):

Skarp, S (Sini). “Whole exome sequencing in identifying genetic factors in musculoskeletal diseases.” 2019. Web. 15 Jan 2021.

Vancouver:

Skarp S(. Whole exome sequencing in identifying genetic factors in musculoskeletal diseases. [Internet] [Doctoral dissertation]. University of Oulu; 2019. [cited 2021 Jan 15]. Available from: http://urn.fi/urn:isbn:9789526223315.

Council of Science Editors:

Skarp S(. Whole exome sequencing in identifying genetic factors in musculoskeletal diseases. [Doctoral Dissertation]. University of Oulu; 2019. Available from: http://urn.fi/urn:isbn:9789526223315


University of Oulu

27. Paakkola, T. (Teija). Novel genetic causes and functional studies of severe neurological and multi-organ diseases in children.

Degree: 2019, University of Oulu

Abstract Undefined severe neurological and multi-organ diseases are rare as single diseases, but as a group of diseases, they are responsible for significant morbidity, impaired… (more)

Subjects/Keywords: arthrogryposis; encephalomyopathy; neurodegeneration; neuromuscular diseases; whole-exome sequencing; artrogrypoosi; eksomisekvensointi; enkefalomyopatia; neurodegeneraatio; neuromuskulaarisairaudet

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Paakkola, T. (. (2019). Novel genetic causes and functional studies of severe neurological and multi-organ diseases in children. (Doctoral Dissertation). University of Oulu. Retrieved from http://urn.fi/urn:isbn:9789529407712

Chicago Manual of Style (16th Edition):

Paakkola, T (Teija). “Novel genetic causes and functional studies of severe neurological and multi-organ diseases in children.” 2019. Doctoral Dissertation, University of Oulu. Accessed January 15, 2021. http://urn.fi/urn:isbn:9789529407712.

MLA Handbook (7th Edition):

Paakkola, T (Teija). “Novel genetic causes and functional studies of severe neurological and multi-organ diseases in children.” 2019. Web. 15 Jan 2021.

Vancouver:

Paakkola T(. Novel genetic causes and functional studies of severe neurological and multi-organ diseases in children. [Internet] [Doctoral dissertation]. University of Oulu; 2019. [cited 2021 Jan 15]. Available from: http://urn.fi/urn:isbn:9789529407712.

Council of Science Editors:

Paakkola T(. Novel genetic causes and functional studies of severe neurological and multi-organ diseases in children. [Doctoral Dissertation]. University of Oulu; 2019. Available from: http://urn.fi/urn:isbn:9789529407712


New Jersey Institute of Technology

28. Aljouie, Abdulrhman Fahad M. Cancer risk prediction with whole exome sequencing and machine learning.

Degree: PhD, Computer Science, 2019, New Jersey Institute of Technology

  Accurate cancer risk and survival time prediction are important problems in personalized medicine, where disease diagnosis and prognosis are tuned to individuals based on… (more)

Subjects/Keywords: Artificial intellgence; Cancer; Machine learning; Support vector machines; TCGA; Whole-exome sequencing; Bioinformatics; Computer Sciences

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Aljouie, A. F. M. (2019). Cancer risk prediction with whole exome sequencing and machine learning. (Doctoral Dissertation). New Jersey Institute of Technology. Retrieved from https://digitalcommons.njit.edu/dissertations/1428

Chicago Manual of Style (16th Edition):

Aljouie, Abdulrhman Fahad M. “Cancer risk prediction with whole exome sequencing and machine learning.” 2019. Doctoral Dissertation, New Jersey Institute of Technology. Accessed January 15, 2021. https://digitalcommons.njit.edu/dissertations/1428.

MLA Handbook (7th Edition):

Aljouie, Abdulrhman Fahad M. “Cancer risk prediction with whole exome sequencing and machine learning.” 2019. Web. 15 Jan 2021.

Vancouver:

Aljouie AFM. Cancer risk prediction with whole exome sequencing and machine learning. [Internet] [Doctoral dissertation]. New Jersey Institute of Technology; 2019. [cited 2021 Jan 15]. Available from: https://digitalcommons.njit.edu/dissertations/1428.

Council of Science Editors:

Aljouie AFM. Cancer risk prediction with whole exome sequencing and machine learning. [Doctoral Dissertation]. New Jersey Institute of Technology; 2019. Available from: https://digitalcommons.njit.edu/dissertations/1428


Brandeis University

29. Smith, Lacey. Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the ACMG Recommendations into Current Practice of Genetic Counseling.

Degree: 2014, Brandeis University

 The purpose of this study was to investigate how the American College of Medical Genetics and Genomics (ACMG) March 2013 recommendations for reporting incidental findings… (more)

Subjects/Keywords: whole exome sequencing; incidental finding; American College of Medical Genetics and Genomics; genetic counseling; autonomy

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Smith, L. (2014). Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the ACMG Recommendations into Current Practice of Genetic Counseling. (Thesis). Brandeis University. Retrieved from http://hdl.handle.net/10192/27059

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):

Smith, Lacey. “Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the ACMG Recommendations into Current Practice of Genetic Counseling.” 2014. Thesis, Brandeis University. Accessed January 15, 2021. http://hdl.handle.net/10192/27059.

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

MLA Handbook (7th Edition):

Smith, Lacey. “Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the ACMG Recommendations into Current Practice of Genetic Counseling.” 2014. Web. 15 Jan 2021.

Vancouver:

Smith L. Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the ACMG Recommendations into Current Practice of Genetic Counseling. [Internet] [Thesis]. Brandeis University; 2014. [cited 2021 Jan 15]. Available from: http://hdl.handle.net/10192/27059.

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

Council of Science Editors:

Smith L. Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the ACMG Recommendations into Current Practice of Genetic Counseling. [Thesis]. Brandeis University; 2014. Available from: http://hdl.handle.net/10192/27059

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


Brandeis University

30. Lucia, Stephanie. The Parental Perspective of Waiting for Pediatric Clinical Whole Exome Sequencing Results.

Degree: 2020, Brandeis University

Whole exome sequencing (WES) has grown to be one of the most utilized genetic tests in the pediatric population due to improved diagnostic rates, which… (more)

Subjects/Keywords: genetic counseling; whole exome sequencing; genetic testing; parental perspective; emotional; psychological; results; waiting period; pediatrics

Record DetailsSimilar RecordsGoogle PlusoneFacebookTwitterCiteULikeMendeleyreddit

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

APA (6th Edition):

Lucia, S. (2020). The Parental Perspective of Waiting for Pediatric Clinical Whole Exome Sequencing Results. (Thesis). Brandeis University. Retrieved from http://hdl.handle.net/10192/37501

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):

Lucia, Stephanie. “The Parental Perspective of Waiting for Pediatric Clinical Whole Exome Sequencing Results.” 2020. Thesis, Brandeis University. Accessed January 15, 2021. http://hdl.handle.net/10192/37501.

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

MLA Handbook (7th Edition):

Lucia, Stephanie. “The Parental Perspective of Waiting for Pediatric Clinical Whole Exome Sequencing Results.” 2020. Web. 15 Jan 2021.

Vancouver:

Lucia S. The Parental Perspective of Waiting for Pediatric Clinical Whole Exome Sequencing Results. [Internet] [Thesis]. Brandeis University; 2020. [cited 2021 Jan 15]. Available from: http://hdl.handle.net/10192/37501.

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

Council of Science Editors:

Lucia S. The Parental Perspective of Waiting for Pediatric Clinical Whole Exome Sequencing Results. [Thesis]. Brandeis University; 2020. Available from: http://hdl.handle.net/10192/37501

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

[1] [2] [3] [4]

.