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Article: A global reference for human genetic variation

TitleA global reference for human genetic variation
Authors
Issue Date2015
Citation
Nature, 2015, v. 526, n. 7571, p. 68-74 How to Cite?
Abstract© 2015 Macmillan Publishers Limited. All rights reserved. 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.
Persistent Identifierhttp://hdl.handle.net/10722/251126
ISSN
2017 Impact Factor: 41.577
2015 SCImago Journal Rankings: 21.936
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorAuton, Adam-
dc.contributor.authorAbecasis, Gonçalo R.-
dc.contributor.authorAltshuler, David M.-
dc.contributor.authorDurbin, Richard M.-
dc.contributor.authorBentley, David R.-
dc.contributor.authorChakravarti, Aravinda-
dc.contributor.authorClark, Andrew G.-
dc.contributor.authorDonnelly, Peter-
dc.contributor.authorEichler, Evan E.-
dc.contributor.authorFlicek, Paul-
dc.contributor.authorGabriel, Stacey B.-
dc.contributor.authorGibbs, Richard A.-
dc.contributor.authorGreen, Eric D.-
dc.contributor.authorHurles, Matthew E.-
dc.contributor.authorKnoppers, Bartha M.-
dc.contributor.authorKorbel, Jan O.-
dc.contributor.authorLander, Eric S.-
dc.contributor.authorLee, Charles-
dc.contributor.authorLehrach, Hans-
dc.contributor.authorMardis, Elaine R.-
dc.contributor.authorMarth, Gabor T.-
dc.contributor.authorMcVean, Gil A.-
dc.contributor.authorNickerson, Deborah A.-
dc.contributor.authorSchmidt, Jeanette P.-
dc.contributor.authorSherry, Stephen T.-
dc.contributor.authorWang, Jun-
dc.contributor.authorWilson, Richard K.-
dc.contributor.authorBoerwinkle, Eric-
dc.contributor.authorDoddapaneni, Harsha-
dc.contributor.authorHan, Yi-
dc.contributor.authorKorchina, Viktoriya-
dc.contributor.authorKovar, Christie-
dc.contributor.authorLee, Sandra-
dc.contributor.authorMuzny, Donna-
dc.contributor.authorReid, Jeffrey G.-
dc.contributor.authorZhu, Yiming-
dc.contributor.authorChang, Yuqi-
dc.contributor.authorFeng, Qiang-
dc.contributor.authorFang, Xiaodong-
dc.contributor.authorGuo, Xiaosen-
dc.contributor.authorJian, Min-
dc.contributor.authorJiang, Hui-
dc.contributor.authorJin, Xin-
dc.contributor.authorLan, Tianming-
dc.contributor.authorLi, Guoqing-
dc.contributor.authorLi, Jingxiang-
dc.contributor.authorLi, Yingrui-
dc.contributor.authorLiu, Shengmao-
dc.contributor.authorLiu, Xiao-
dc.contributor.authorLu, Yao-
dc.contributor.authorMa, Xuedi-
dc.contributor.authorTang, Meifang-
dc.contributor.authorWang, Bo-
dc.contributor.authorWang, Guangbiao-
dc.contributor.authorWu, Honglong-
dc.contributor.authorWu, Renhua-
dc.contributor.authorXu, Xun-
dc.contributor.authorYin, Ye-
dc.contributor.authorZhang, Dandan-
dc.contributor.authorZhang, Wenwei-
dc.contributor.authorZhao, Jiao-
dc.contributor.authorZhao, Meiru-
dc.contributor.authorZheng, Xiaole-
dc.contributor.authorGupta, Namrata-
dc.contributor.authorGharani, Neda-
dc.contributor.authorToji, Lorraine H.-
dc.contributor.authorGerry, Norman P.-
dc.contributor.authorResch, Alissa M.-
dc.contributor.authorBarker, Jonathan-
dc.contributor.authorClarke, Laura-
dc.contributor.authorGil, Laurent-
dc.contributor.authorHunt, Sarah E.-
dc.contributor.authorKelman, Gavin-
dc.contributor.authorKulesha, Eugene-
dc.contributor.authorLeinonen, Rasko-
dc.contributor.authorMcLaren, William M.-
dc.contributor.authorRadhakrishnan, Rajesh-
dc.contributor.authorRoa, Asier-
dc.contributor.authorSmirnov, Dmitriy-
dc.contributor.authorSmith, Richard E.-
dc.contributor.authorStreeter, Ian-
dc.contributor.authorThormann, Anja-
dc.contributor.authorToneva, Iliana-
dc.contributor.authorVaughan, Brendan-
dc.date.accessioned2018-02-01T01:54:40Z-
dc.date.available2018-02-01T01:54:40Z-
dc.date.issued2015-
dc.identifier.citationNature, 2015, v. 526, n. 7571, p. 68-74-
dc.identifier.issn0028-0836-
dc.identifier.urihttp://hdl.handle.net/10722/251126-
dc.description.abstract© 2015 Macmillan Publishers Limited. All rights reserved. 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.languageeng-
dc.relation.ispartofNature-
dc.titleA global reference for human genetic variation-
dc.typeArticle-
dc.description.natureLink_to_subscribed_fulltext-
dc.identifier.doi10.1038/nature15393-
dc.identifier.pmid26432245-
dc.identifier.scopuseid_2-s2.0-84943171338-
dc.identifier.volume526-
dc.identifier.issue7571-
dc.identifier.spage68-
dc.identifier.epage74-
dc.identifier.eissn1476-4687-
dc.identifier.isiWOS:000362095100036-

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