|
| | | | |
| | | |
| Stat |
Members: 3645
Articles: 2'501'711
Articles rated: 2609
20 April 2024 |
|
| | | | |
|
Article overview
| |
|
|
Paired-end mapping reveals extensive structural variation in the human genome | | Jan O Korbel
; Alexander Eckehart Urban
; Jason P Affourtit
; Brian Godwin
; Fabian Grubert
; Jan Fredrik Simons
; Philip M Kim
; Dean Palejev
; Nicholas J Carriero
; Lei Du
; Bruce E Taillon
; Zhoutao Chen
; Andrea Tanzer
; A C Eugenia Saunders
; Jianxiang Chi
; Fengtang Yang
; Nigel P Carter
; Matthew E Hurles
; Sherman M Weissman
; Timothy T Harkins
; Mark B Gerstein
; Michael Egholm
; Michael Snyder
; | | Date: |
19 Oct 2007 | | Journal: | Science, 318 (5849), 420-6 | | Abstract: | Structural variation of the genome involves kilobase- to megabase-sized deletions, duplications, insertions, inversions, and complex combinations of rearrangements. We introduce high-throughput and massive paired-end mapping (PEM), a large-scale genome-sequencing method to identify structural variants (SVs) approximately 3 kilobases (kb) or larger that combines the rescue and capture of paired ends of 3-kb fragments, massive 454 sequencing, and a computational approach to map DNA reads onto a reference genome. PEM was used to map SVs in an African and in a putatively European individual and identified shared and divergent SVs relative to the reference genome. Overall, we fine-mapped more than 1000 SVs and documented that the number of SVs among humans is much larger than initially hypothesized; many of the SVs potentially affect gene function. The breakpoint junction sequences of more than 200 SVs were determined with a novel pooling strategy and computational analysis. Our analysis provided insights into the mechanisms of SV formation in humans. | | Source: | PubMed, pmid17901297 doi: 10.1126/science.1149504 | | Services: | Forum | Review | Favorites | |
|
|
No review found.
Did you like this article?
Note: answers to reviews or questions about the article must be posted in the forum section.
Authors are not allowed to review their own article. They can use the forum section.
browser Mozilla/5.0 AppleWebKit/537.36 (KHTML, like Gecko; compatible; ClaudeBot/1.0; +claudebot@anthropic.com)
|
| |
|
|
|
|
News, job offers and information for researchers and scientists:
| |
REGISTER