| pubmed-article:17901297 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:17901297 | lifeskim:mentions | umls-concept:C0205419 | lld:lifeskim |
| pubmed-article:17901297 | lifeskim:mentions | umls-concept:C0017429 | lld:lifeskim |
| pubmed-article:17901297 | lifeskim:mentions | umls-concept:C0678594 | lld:lifeskim |
| pubmed-article:17901297 | lifeskim:mentions | umls-concept:C1283195 | lld:lifeskim |
| pubmed-article:17901297 | lifeskim:mentions | umls-concept:C0205231 | lld:lifeskim |
| pubmed-article:17901297 | pubmed:issue | 5849 | lld:pubmed |
| pubmed-article:17901297 | pubmed:dateCreated | 2007-10-19 | lld:pubmed |
| pubmed-article:17901297 | pubmed:abstractText | 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. | lld:pubmed |
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| pubmed-article:17901297 | pubmed:language | eng | lld:pubmed |
| pubmed-article:17901297 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17901297 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:17901297 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:17901297 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:17901297 | pubmed:issn | 1095-9203 | lld:pubmed |
| pubmed-article:17901297 | pubmed:author | pubmed-author:ItôHH | lld:pubmed |
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| pubmed-article:17901297 | pubmed:author | pubmed-author:YangFengtangF | lld:pubmed |
| pubmed-article:17901297 | pubmed:author | pubmed-author:ChenZhoutaoZ | lld:pubmed |
| pubmed-article:17901297 | pubmed:author | pubmed-author:KimPhilip MPM | lld:pubmed |
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| pubmed-article:17901297 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:17901297 | pubmed:day | 19 | lld:pubmed |
| pubmed-article:17901297 | pubmed:volume | 318 | lld:pubmed |
| pubmed-article:17901297 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:17901297 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:17901297 | pubmed:pagination | 420-6 | lld:pubmed |
| pubmed-article:17901297 | pubmed:dateRevised | 2009-11-19 | lld:pubmed |
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| pubmed-article:17901297 | pubmed:year | 2007 | lld:pubmed |
| pubmed-article:17901297 | pubmed:articleTitle | Paired-end mapping reveals extensive structural variation in the human genome. | lld:pubmed |
| pubmed-article:17901297 | pubmed:affiliation | Molecular Biophysics and Biochemistry Department, Yale University, New Haven, CT 06520, USA. | lld:pubmed |
| pubmed-article:17901297 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:17901297 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| pubmed-article:17901297 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
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