Article
Paired-end mapping reveals extensive structural variation in the human genome.
Science (New York, N.Y.) - 19 Oct 2007
Korbel Jan O, Urban Alexander Eckehart, Affourtit Jason P, Godwin Brian, Grubert Fabian, Simons Jan Fredrik, Kim Philip M, Palejev Dean, Carriero Nicholas J, Du Lei, Taillon Bruce E, Chen Zhoutao, Tanzer Andrea, Saunders A C Eugenia, Chi Jianxiang, Yang Fengtang, Carter Nigel P, Hurles Matthew E, Weissman Sherman M, Harkins Timothy T, Gerstein Mark B, Egholm Michael, Snyder Michael
Abstract excerpt
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...
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