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020 ▼a 9780438174511
035 ▼a (MiAaPQ)AAI10825462
035 ▼a (MiAaPQ)washington:18537
040 ▼a MiAaPQ ▼c MiAaPQ ▼d 248032
0491 ▼f DP
0820 ▼a 574
1001 ▼a Klein, Jason C.
24510 ▼a Massively Parallel Characterization of Enhancers in Evolution and Disease.
260 ▼a [S.l.] : ▼b University of Washington., ▼c 2018
260 1 ▼a Ann Arbor : ▼b ProQuest Dissertations & Theses, ▼c 2018
300 ▼a 151 p.
500 ▼a Source: Dissertation Abstracts International, Volume: 79-12(E), Section: B.
500 ▼a Adviser: Jay Shendure.
5021 ▼a Thesis (Ph.D.)--University of Washington, 2018.
520 ▼a 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
520 ▼a 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
520 ▼a 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
520 ▼a 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
520 ▼a 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
590 ▼a School code: 0250.
650 4 ▼a Biology.
650 4 ▼a Genetics.
690 ▼a 0306
690 ▼a 0369
71020 ▼a University of Washington. ▼b Genome Sciences.
7730 ▼t Dissertation Abstracts International ▼g 79-12B(E).
773 ▼t Dissertation Abstract International
790 ▼a 0250
791 ▼a Ph.D.
792 ▼a 2018
793 ▼a English
85640 ▼u http://www.riss.kr/pdu/ddodLink.do?id=T14998766 ▼n KERIS
980 ▼a 201812 ▼f 2019
990 ▼a 관리자 ▼b 관리자