A global reference for human genetic variation.
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.
Duke Scholars
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Related Subject Headings
- Sequence Analysis, DNA
- Reference Standards
- Rare Diseases
- Quantitative Trait Loci
- Polymorphism, Single Nucleotide
- Physical Chromosome Mapping
- Internationality
- INDEL Mutation
- Humans
- High-Throughput Nucleotide Sequencing
Citation
Published In
DOI
EISSN
ISSN
Publication Date
Volume
Issue
Start / End Page
Related Subject Headings
- Sequence Analysis, DNA
- Reference Standards
- Rare Diseases
- Quantitative Trait Loci
- Polymorphism, Single Nucleotide
- Physical Chromosome Mapping
- Internationality
- INDEL Mutation
- Humans
- High-Throughput Nucleotide Sequencing