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LiteratureArticle Details
PMID: 26432245
Published · ppublish
English
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
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.
MeSH Terms
Datasets as Topic
Demography
Disease Susceptibility
Exome/genetics
Genetic Variation/genetics
Genetics, Medical
Genetics, Population/standards
Genome, Human/genetics
Genome-Wide Association Study
Genomics/standards
Genotype
Haplotypes/genetics
High-Throughput Nucleotide Sequencing
Humans
INDEL Mutation/genetics
Internationality
Physical Chromosome Mapping
Polymorphism, Single Nucleotide/genetics
Quantitative Trait Loci/genetics
Rare Diseases/genetics
Reference Standards
Sequence Analysis, DNA
Investigators
843 investigators, click to expand
References (38)
38 references, click to expand
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Article Info
Journal
Nature
Abbr.
Nature
ISSN
1476-4687
Published
2015-10-01
Pages
68-74
Language
English
Region
England
NLM ID
0410462
PMCID
PMC4750478
Subset
IM
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