| pubmed-article:16327808 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:16327808 | lifeskim:mentions | umls-concept:C1442161 | lld:lifeskim |
| pubmed-article:16327808 | lifeskim:mentions | umls-concept:C0017429 | lld:lifeskim |
| pubmed-article:16327808 | lifeskim:mentions | umls-concept:C1882417 | lld:lifeskim |
| pubmed-article:16327808 | lifeskim:mentions | umls-concept:C0038951 | lld:lifeskim |
| pubmed-article:16327808 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:16327808 | pubmed:dateCreated | 2005-12-28 | lld:pubmed |
| pubmed-article:16327808 | pubmed:abstractText | Recent work has shown that copy number polymorphism is an important class of genetic variation in human genomes. Here we report a new method that uses SNP genotype data from parent-offspring trios to identify polymorphic deletions. We applied this method to data from the International HapMap Project to produce the first high-resolution population surveys of deletion polymorphism. Approximately 100 of these deletions have been experimentally validated using comparative genome hybridization on tiling-resolution oligonucleotide microarrays. Our analysis identifies a total of 586 distinct regions that harbor deletion polymorphisms in one or more of the families. Notably, we estimate that typical individuals are hemizygous for roughly 30-50 deletions larger than 5 kb, totaling around 550-750 kb of euchromatic sequence across their genomes. The detected deletions span a total of 267 known and predicted genes. Overall, however, the deleted regions are relatively gene-poor, consistent with the action of purifying selection against deletions. Deletion polymorphisms may well have an important role in the genetics of complex traits; however, they are not directly observed in most current gene mapping studies. Our new method will permit the identification of deletion polymorphisms in high-density SNP surveys of trio or other family data. | lld:pubmed |
| pubmed-article:16327808 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16327808 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16327808 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16327808 | pubmed:language | eng | lld:pubmed |
| pubmed-article:16327808 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16327808 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:16327808 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:16327808 | pubmed:month | Jan | lld:pubmed |
| pubmed-article:16327808 | pubmed:issn | 1061-4036 | lld:pubmed |
| pubmed-article:16327808 | pubmed:author | pubmed-author:HurlesMatthew... | lld:pubmed |
| pubmed-article:16327808 | pubmed:author | pubmed-author:ConradDonald... | lld:pubmed |
| pubmed-article:16327808 | pubmed:author | pubmed-author:CarterNigel... | lld:pubmed |
| pubmed-article:16327808 | pubmed:author | pubmed-author:PritchardJona... | lld:pubmed |
| pubmed-article:16327808 | pubmed:author | pubmed-author:AndrewsT... | lld:pubmed |
| pubmed-article:16327808 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:16327808 | pubmed:volume | 38 | lld:pubmed |
| pubmed-article:16327808 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:16327808 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:16327808 | pubmed:pagination | 75-81 | lld:pubmed |
| pubmed-article:16327808 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
| pubmed-article:16327808 | pubmed:meshHeading | pubmed-meshheading:16327808... | lld:pubmed |
| pubmed-article:16327808 | pubmed:meshHeading | pubmed-meshheading:16327808... | lld:pubmed |
| pubmed-article:16327808 | pubmed:meshHeading | pubmed-meshheading:16327808... | lld:pubmed |
| pubmed-article:16327808 | pubmed:meshHeading | pubmed-meshheading:16327808... | lld:pubmed |
| pubmed-article:16327808 | pubmed:meshHeading | pubmed-meshheading:16327808... | lld:pubmed |
| pubmed-article:16327808 | pubmed:meshHeading | pubmed-meshheading:16327808... | lld:pubmed |
| pubmed-article:16327808 | pubmed:meshHeading | pubmed-meshheading:16327808... | lld:pubmed |
| pubmed-article:16327808 | pubmed:meshHeading | pubmed-meshheading:16327808... | lld:pubmed |
| pubmed-article:16327808 | pubmed:meshHeading | pubmed-meshheading:16327808... | lld:pubmed |
| pubmed-article:16327808 | pubmed:meshHeading | pubmed-meshheading:16327808... | lld:pubmed |
| pubmed-article:16327808 | pubmed:meshHeading | pubmed-meshheading:16327808... | lld:pubmed |
| pubmed-article:16327808 | pubmed:year | 2006 | lld:pubmed |
| pubmed-article:16327808 | pubmed:articleTitle | A high-resolution survey of deletion polymorphism in the human genome. | lld:pubmed |
| pubmed-article:16327808 | pubmed:affiliation | Department of Human Genetics, The University of Chicago, 920 East 58th Street, Chicago, Illinois 60637, USA. | lld:pubmed |
| pubmed-article:16327808 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:16327808 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| pubmed-article:16327808 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
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