Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Charles Lee | * |
dc.date.accessioned | 2016-08-27T04:08:16Z | - |
dc.date.available | 2016-08-27T04:08:16Z | - |
dc.date.issued | 2015 | * |
dc.identifier.issn | 0028-0836 | * |
dc.identifier.issn | 1476-4687 | * |
dc.identifier.other | OAK-15747 | * |
dc.identifier.uri | https://dspace.ewha.ac.kr/handle/2015.oak/217675 | - |
dc.description.abstract | The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping. We characterized a broad spectrum of genetic variation, in total over 88 million variants (84.7 million single nucleotide polymorphisms (SNPs), 3.6 million short insertions/deletions (indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes >99% of SNP variants with a frequency of >1% for a variety of ancestries. We describe the distribution of genetic variation across the global sample, and discuss the implications for common disease studies. | * |
dc.language | English | * |
dc.publisher | NATURE PUBLISHING GROUP | * |
dc.title | A global reference for human genetic variation | * |
dc.type | Article | * |
dc.relation.issue | 7571 | * |
dc.relation.volume | 526 | * |
dc.relation.index | SCI | * |
dc.relation.index | SCIE | * |
dc.relation.index | SCOPUS | * |
dc.relation.startpage | 68 | * |
dc.relation.lastpage | + | * |
dc.relation.journaltitle | NATURE | * |
dc.identifier.doi | 10.1038/nature15393 | * |
dc.identifier.wosid | WOS:000362095100036 | * |
dc.identifier.scopusid | 2-s2.0-84943171338 | * |
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dc.author.google | Lee, Charles | * |
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dc.author.google | Rockett, Kirk | * |
dc.author.google | Kwiatkowski, Dominic | * |
dc.author.google | Kooner, Jaspal | * |
dc.author.google | Tran Tinh Hien | * |
dc.author.google | Dunstan, Sarah J. | * |
dc.author.google | Nguyen Thuy Hang | * |
dc.author.google | Fonnie, Richard | * |
dc.author.google | Garry, Robert | * |
dc.author.google | Kanneh, Lansana | * |
dc.author.google | Moses, Lina | * |
dc.author.google | Schieffelin, John | * |
dc.author.google | Grant, Donald S. | * |
dc.author.google | Gallo, Carla | * |
dc.author.google | Poletti, Giovanni | * |
dc.author.google | Saleheen, Danish | * |
dc.author.google | Rasheed, Asif | * |
dc.author.google | Brook, Lisa D. | * |
dc.author.google | Felsenfeld, Adaml. | * |
dc.author.google | McEwen, Jean E. | * |
dc.author.google | Vaydylevich, Yekaterina | * |
dc.author.google | Duncanson, Audrey | * |
dc.author.google | Dunn, Michael | * |
dc.author.google | Schloss, Jeffery A. | * |
dc.author.google | Brooks, Lisa D. | * |
dc.author.google | Abecasis, Goncalo R.|Genomes Project Consortium | * |
dc.contributor.scopusid | Charles Lee(23980489900;57290864600) | * |
dc.date.modifydate | 20231123120503 | * |