Authors
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, AC 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
Publication date
2007/10/19
Journal
Science
Volume
318
Issue
5849
Pages
420-426
Publisher
American Association for the Advancement of Science
Description
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) ∼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 …
Total citations
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