An integrated map of genetic variation from 1,092 human genomes View Full Text


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Article Info

DATE

2012-11

AUTHORS

Goncalo R Abecasis, Adam Auton, Lisa D Brooks, Mark A DePristo, Richard M Durbin, Robert E Handsaker, Hyun Min Kang, Gabor T Marth, Gil A McVean

ABSTRACT

By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of low-coverage whole-genome and exome sequencing. By developing methods to integrate information across several algorithms and diverse data sources, we provide a validated haplotype map of 38 million single nucleotide polymorphisms, 1.4 million short insertions and deletions, and more than 14,000 larger deletions. We show that individuals from different populations carry different profiles of rare and common variants, and that low-frequency variants show substantial geographic differentiation, which is further increased by the action of purifying selection. We show that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites. This resource, which captures up to 98% of accessible single nucleotide polymorphisms at a frequency of 1% in related populations, enables analysis of common and low-frequency variants in individuals from diverse, including admixed, populations. More... »

PAGES

56

References to SciGraph publications

  • 2010-04. Origins and functional impact of copy number variation in the human genome in NATURE
  • 2011-02-03. Mapping copy number variation by population-scale genome sequencing in NATURE
  • 2012-02. De novo assembly and genotyping of variants using colored de Bruijn graphs in NATURE GENETICS
  • 2012-08. TNF receptor 1 genetic risk mirrors outcome of anti-TNF therapy in multiple sclerosis in NATURE
  • 2012-02. DNase I sensitivity QTLs are a major determinant of human expression variation in NATURE
  • 2011-01. Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease in NATURE GENETICS
  • 2010-11. A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1 in NATURE GENETICS
  • 2011-06-29. Integrated genomic analyses of ovarian carcinoma in NATURE
  • 2010-05. Genetic loci influencing kidney function and chronic kidney disease in NATURE GENETICS
  • 2007-10-18. A second generation human haplotype map of over 3.1 million SNPs in NATURE
  • 2011-03. Discovery and genotyping of genome structural polymorphism by sequencing on a population scale in NATURE GENETICS
  • 2011-11. Exome sequencing as a tool for Mendelian disease gene discovery in NATURE REVIEWS GENETICS
  • 2011-12. A rare penetrant mutation in CFH confers high risk of age-related macular degeneration in NATURE GENETICS
  • 2010-04. Gene–environment-wide association studies: emerging approaches in NATURE REVIEWS GENETICS
  • 2011-09. The functional spectrum of low-frequency coding variation in GENOME BIOLOGY
  • 2010-10-28. A map of human genome variation from population-scale sequencing in NATURE
  • 2009-01. The Human Gene Mutation Database: 2008 update in GENOME MEDICINE
  • 2012-03. Differential confounding of rare and common variants in spatially structured populations in NATURE GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/nature11632

    DOI

    http://dx.doi.org/10.1038/nature11632

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1000661742

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/23128226


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