| pubmed-article:18776910 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:18776910 | lifeskim:mentions | umls-concept:C0031809 | lld:lifeskim |
| pubmed-article:18776910 | lifeskim:mentions | umls-concept:C1511790 | lld:lifeskim |
| pubmed-article:18776910 | lifeskim:mentions | umls-concept:C0205419 | lld:lifeskim |
| pubmed-article:18776910 | lifeskim:mentions | umls-concept:C0752046 | lld:lifeskim |
| pubmed-article:18776910 | lifeskim:mentions | umls-concept:C1285573 | lld:lifeskim |
| pubmed-article:18776910 | lifeskim:mentions | umls-concept:C0220922 | lld:lifeskim |
| pubmed-article:18776910 | lifeskim:mentions | umls-concept:C1707513 | lld:lifeskim |
| pubmed-article:18776910 | pubmed:issue | 10 | lld:pubmed |
| pubmed-article:18776910 | pubmed:dateCreated | 2008-9-26 | lld:pubmed |
| pubmed-article:18776910 | pubmed:abstractText | SNP genotyping has emerged as a technology to incorporate copy number variants (CNVs) into genetic analyses of human traits. However, the extent to which SNP platforms accurately capture CNVs remains unclear. Using independent, sequence-based CNV maps, we find that commonly used SNP platforms have limited or no probe coverage for a large fraction of CNVs. Despite this, in 9 samples we inferred 368 CNVs using Illumina SNP genotyping data and experimentally validated over two-thirds of these. We also developed a method (SNP-Conditional Mixture Modeling, SCIMM) to robustly genotype deletions using as few as two SNP probes. We find that HapMap SNPs are strongly correlated with 82% of common deletions, but the newest SNP platforms effectively tag about 50%. We conclude that currently available genome-wide SNP assays can capture CNVs accurately, but improvements in array designs, particularly in duplicated sequences, are necessary to facilitate more comprehensive analyses of genomic variation. | lld:pubmed |
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| pubmed-article:18776910 | pubmed:language | eng | lld:pubmed |
| pubmed-article:18776910 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18776910 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:18776910 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:18776910 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:18776910 | pubmed:issn | 1546-1718 | lld:pubmed |
| pubmed-article:18776910 | pubmed:author | pubmed-author:EichlerEvan... | lld:pubmed |
| pubmed-article:18776910 | pubmed:author | pubmed-author:NickersonDebo... | lld:pubmed |
| pubmed-article:18776910 | pubmed:author | pubmed-author:CooperGregory... | lld:pubmed |
| pubmed-article:18776910 | pubmed:author | pubmed-author:ZerrTroyT | lld:pubmed |
| pubmed-article:18776910 | pubmed:author | pubmed-author:KiddJeffrey... | lld:pubmed |
| pubmed-article:18776910 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:18776910 | pubmed:volume | 40 | lld:pubmed |
| pubmed-article:18776910 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:18776910 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:18776910 | pubmed:pagination | 1199-203 | lld:pubmed |
| pubmed-article:18776910 | pubmed:dateRevised | 2011-9-26 | lld:pubmed |
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| pubmed-article:18776910 | pubmed:year | 2008 | lld:pubmed |
| pubmed-article:18776910 | pubmed:articleTitle | Systematic assessment of copy number variant detection via genome-wide SNP genotyping. | lld:pubmed |
| pubmed-article:18776910 | pubmed:affiliation | Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA. coopergm@u.washington.edu | lld:pubmed |
| pubmed-article:18776910 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:18776910 | pubmed:publicationType | Research Support, U.S. Gov't, Non-P.H.S. | lld:pubmed |
| pubmed-article:18776910 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| pubmed-article:18776910 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
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