자료유형 | E-Book |
---|---|
개인저자 | Klein, Jason C. |
단체저자명 | University of Washington. Genome Sciences. |
서명/저자사항 | Massively Parallel Characterization of Enhancers in Evolution and Disease. |
발행사항 | [S.l.] : University of Washington., 2018 |
발행사항 | Ann Arbor : ProQuest Dissertations & Theses, 2018 |
형태사항 | 151 p. |
소장본 주기 | School code: 0250. |
ISBN | 9780438174511 |
일반주기 |
Source: Dissertation Abstracts International, Volume: 79-12(E), Section: B.
Adviser: Jay Shendure. |
요약 | On 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 |
요약 | Enhances 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 |
요약 | In 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 |
요약 | In 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 |
요약 | Chapter 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 |
일반주제명 | Biology. Genetics. |
언어 | 영어 |
기본자료 저록 | Dissertation Abstracts International79-12B(E). Dissertation Abstract International |
대출바로가기 | http://www.riss.kr/pdu/ddodLink.do?id=T14998766 |
인쇄
No. | 등록번호 | 청구기호 | 소장처 | 도서상태 | 반납예정일 | 예약 | 서비스 | 매체정보 |
---|---|---|---|---|---|---|---|---|
1 | WE00024560 | DP 574 | 가야대학교/전자책서버(컴퓨터서버)/ | 대출불가(별치) |