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  A global reference for human genetic variation

The 1000 Genome Project Consortium, Lehrach, H., Amstislavskiy, V., Lienhard, M., Mertes, F., Sultan, M., et al. (2015). A global reference for human genetic variation. Nature, 526(7571), 68-74. doi:10.1038/nature15393.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0028-E08C-0 Version Permalink: http://hdl.handle.net/21.11116/0000-0000-FA48-6
Genre: Journal Article

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 Creators:
The 1000 Genome Project Consortium, Author
Lehrach, Hans1, Author              
Amstislavskiy, Vyacheslav2, Author              
Lienhard, Matthias3, Author              
Mertes, Florian1, Author
Sultan, Marc2, Author              
Timmermann, Bernd4, Author              
Yaspo, Marie-Laure2, Author              
Herwig, Ralf3, Author              
Affiliations:
1Emeritus Group of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385697              
2Gene Regulation and Systems Biology of Cancer (Marie-Laure Yaspo), Independent Junior Research Groups (OWL), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2117287              
3Bioinformatics (Ralf Herwig), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385701              
4Sequencing (Head: Bernd Timmermann), Scientific Service (Head: Christoph Krukenkamp), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479670              

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Free keywords: Genomics, Genetic variation
 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.

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Language(s): eng - English
 Dates: 2015-09-302015-10-01
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: DOI: 10.1038/nature15393
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Title: Nature
  Abbreviation : Nature
Source Genre: Journal
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Publ. Info: London : Nature Publishing Group
Pages: - Volume / Issue: 526 (7571) Sequence Number: - Start / End Page: 68 - 74 Identifier: ISSN: 0028-0836
CoNE: /journals/resource/954925427238