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Massively Parallel Characterization of Enhancers in Evolution and Disease

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개인저자Klein, Jason C.
단체저자명University of Washington. Genome Sciences.
서명/저자사항Massively Parallel Characterization of Enhancers in Evolution and Disease.
발행사항[S.l.] : University of Washington., 2018
발행사항Ann Arbor : ProQuest Dissertations & Theses, 2018
형태사항151 p.
소장본 주기School code: 0250.
ISBN9780438174511
일반주기 Source: Dissertation Abstracts International, Volume: 79-12(E), Section: B.
Adviser: Jay Shendure.
요약On average, protein-coding sequence is over 99.9% identical between humans, yet some individuals develop disease while others do not. Similarly, protein-coding sequences are over 99% identical between human and chimpanzees despite large phenotyp
요약Enhances were first discovered in 1981 as pieces of DNA that are able to increase gene expression independent of their relative position and orientation to the transcriptional start site (TSS). Despite enhancers being implicated in a variety of
요약In chapters three and four, I apply MPRAs to characterize regulatory changes over primate evolution and identify mutations within enhancers that may contribute to a patient's risk for Osteoarthritis. Enhancers have previously been suggested to p
요약In chapter four, I applied the same assay to identify common polymorphisms that are associated with Osteoarthritis, which alter enhancer activity. From 35 lead GWAS variants, I identified 1605 SNPs associated with Osteoarthritis in European popu
요약Chapter five discusses ongoing and future projects to systematically compare different enhancer assays to improve sensitivity and specificity of enhancer screens. It also suggests future applications of these assays to better understand the role
일반주제명Biology.
Genetics.
언어영어
기본자료 저록Dissertation Abstracts International79-12B(E).
Dissertation Abstract International
대출바로가기http://www.riss.kr/pdu/ddodLink.do?id=T14998766

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