A map of human genome variation from population-scale sequencing

The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype. Here we present results of the pilot phase of the project, designed to develop and compare different strategies for genome-wide sequencing with high-throughput platforms. We undertook three projects: low-coverage whole-genome sequencing of 179 individuals from four populations; high-coverage sequencing of two mother–father–child trios; and exon-targeted sequencing of 697 individuals from seven populations. We describe the location, allele frequency and local haplotype structure of approximately 15 million single nucleotide…

• NS
  National Science Foundation
• HH
  Howard Hughes Medical Institute
• DD
  Doris Duke Charitable Foundation
• PC
  Pew Charitable Trusts
• WT
  Wellcome Trust
• TG
  Translational Genomics Research Institute
• BH
  British Heart Foundation
• LT
  Leverhulme Trust
• DF
  Deutsche Forschungsgemeinschaft
• LF
  Louis-Jeantet Foundation
• SN
  Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

  Award: 28096
• NN
  National Natural Science Foundation of China

  Awards: 30890032, 30221004, 30725008
• BF
  Bundesministerium für Bildung und Forschung

  Awards: 01GS08201, 0315428A
• GO
  Government of Jiangxi Province
• M
  Max-Planck-Gesellschaft
• MD
  Ministero dello Sviluppo Economico
• NI
  National Institutes of Health
• MR
  Medical Research Council
• EA
  Engineering and Physical Sciences Research Council
• NH
  National High-tech Research and Development Program
• NK
  National Key Research and Development Program of China
• NI
  National Institute of Environmental Health Sciences

  Award: 28096
• UN
  U.S. National Library of Medicine