Paired-end mapping reveals extensive structural variation in the human genome

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ID: 272023
2007
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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 varian …
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Authors Korbel JO;Urban AE;Affourtit JP;Godwin B;Grubert F;Simons JF;Kim PM;Palejev D;Carriero NJ;Du L;Taillon BE;Chen Z;Tanzer A;Saunders AC;Chi J;Yang F;Carter NP;Hurles ME;Weissman SM;Harkins TT;Gerstein MB;Egholm M;Snyder M;;
Journal Science (New York, N.Y.)
Year 2007
DOI
DOI not found
URL
http://www.ncbi.nlm.nih.gov/pubmed/17901297
Keywords
National Center for Biotechnology Information NCBI NLM MEDLINE genetic humans pubmed abstract nih national institutes of health national library of medicine research support non-u.s. gov't female N.I.H. Extramural DNA Sequence Analysis genome recombination computational biology chromosome mapping oligonucleotide array sequence analysis nucleic acid retroelements repetitive sequences human* mutation* mutagenesis sequence deletion genetic variation* insertional pmid:17901297 pmc2674581 doi:10.1126/science.1149504 jan o korbel alexander eckehart urban michael snyder chromosome inversion gene fusion

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