Exploration of Existing Patterns in Copy Number Variations of Genetic Diseases and Disorders, Ph.D. Dissertation Sharif University of Technology ; Rabiee, Hamid Reza (Supervisor)
Abstract
One of the main sources of genetic variations are structural variations, including the widespread Copy Number Variations (CNVs). CNVs include two types, copy of genetic material (duplication) and loss of part of genetic sequence (deletion) and typically range from one kilobase pairs (Kbp) to several megabase pairs (Mbp) in size. Most of the copy number variations are occured in in healthy people; however, these variants can also contribute to numerous diseases through several genetic mechanisms (e.g. change gene dosage through insertions, duplications or deletions). The CNV study can provide greater insight into the etiology of disease phenotypes. Nowadays, with the huge amount of investment...
Cataloging briefExploration of Existing Patterns in Copy Number Variations of Genetic Diseases and Disorders, Ph.D. Dissertation Sharif University of Technology ; Rabiee, Hamid Reza (Supervisor)
Abstract
One of the main sources of genetic variations are structural variations, including the widespread Copy Number Variations (CNVs). CNVs include two types, copy of genetic material (duplication) and loss of part of genetic sequence (deletion) and typically range from one kilobase pairs (Kbp) to several megabase pairs (Mbp) in size. Most of the copy number variations are occured in in healthy people; however, these variants can also contribute to numerous diseases through several genetic mechanisms (e.g. change gene dosage through insertions, duplications or deletions). The CNV study can provide greater insight into the etiology of disease phenotypes. Nowadays, with the huge amount of investment...
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