| LDR | | 00000nmm u2200205 4500 |
| 001 | | 000000330233 |
| 005 | | 20241025153133 |
| 008 | | 181129s2018 ||| | | | eng d |
| 020 | |
▼a 9780438174511 |
| 035 | |
▼a (MiAaPQ)AAI10825462 |
| 035 | |
▼a (MiAaPQ)washington:18537 |
| 040 | |
▼a MiAaPQ
▼c MiAaPQ
▼d 248032 |
| 049 | 1 |
▼f DP |
| 082 | 0 |
▼a 574 |
| 100 | 1 |
▼a Klein, Jason C. |
| 245 | 10 |
▼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. |
| 502 | 1 |
▼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 |
| 710 | 20 |
▼a University of Washington.
▼b Genome Sciences. |
| 773 | 0 |
▼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 |
| 856 | 40 |
▼u http://www.riss.kr/pdu/ddodLink.do?id=T14998766
▼n KERIS |
| 980 | |
▼a 201812
▼f 2019 |
| 990 | |
▼a 관리자
▼b 관리자 |