articleNatureOct 31, 2012HYBRID OA

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

ZI Zamin Iqbal ZI Zamin IqbalAR Andy RimmerAG Anjali Gupta-HinchGAGil A. McVean

Centre for Human Genetics · University of Michigan · +90 more institutions

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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,…

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Authors

437
  • ZI
     Zamin Iqbal Corresponding

    Centre for Human Genetics, University of Michigan, University of Oxford

  • ZI
     Zamin Iqbal

    Centre for Human Genetics, Yeshiva University, University of Oxford

  • AR
     Andy Rimmer

    National Institutes of Health, Centre for Human Genetics, University of Oxford

  • AG
     Anjali Gupta-Hinch

    Broad Institute, Centre for Human Genetics, University of Oxford

  • GA
    Gil A. McVean

    Centre for Human Genetics, Wellcome Sanger Institute, University of Oxford

Topics & keywords

Topics
Keywords
  • Variation (astronomy)
  • Human genetic variation
  • Human genome
  • Genetic variation
  • Genome
  • Evolutionary biology
  • Biology
  • Genetics
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