title: A global reference for human 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.
authors.forename: Adam
authors.initials: A
authors.lastname: Auton
authors.forename: Lisa D
authors.initials: LD
authors.lastname: Brooks
authors.forename: Richard M
authors.initials: RM
authors.lastname: Durbin
authors.forename: Erik P
authors.initials: EP
authors.lastname: Garrison
authors.forename: Hyun Min
authors.initials: HM
authors.lastname: Kang
authors.forename: Jan O
authors.initials: JO
authors.lastname: Korbel
authors.forename: Jonathan L
authors.initials: JL
authors.lastname: Marchini
authors.forename: Shane
authors.initials: S
authors.lastname: McCarthy
authors.forename: Gil A
authors.initials: GA
authors.lastname: McVean
authors.forename: Gonçalo R
authors.initials: GR
authors.lastname: Abecasis
mesh_terms: D066264:Datasets as Topic; D003710:Demography; D004198:Disease Susceptibility; D059472:Exome / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D005826:Genetics, Medical; D005828:Genetics, Population / Q000592:standards*; D015894:Genome, Human / Q000235:genetics*; D055106:Genome-Wide Association Study; D023281:Genomics / Q000592:standards*; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D054643:INDEL Mutation / Q000235:genetics; D038622:Internationality; D020161:Physical Chromosome Mapping; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D040641:Quantitative Trait Loci / Q000235:genetics; D035583:Rare Diseases / Q000235:genetics; D012015:Reference Standards; D017422:Sequence Analysis, DNA