A global reference for human genetic variation
File(s)A global reference for human genetic variation.pdf (9.5 MB)
Published version
Author(s)
Type
Journal Article
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.
Date Issued
2015-09-30
Date Acceptance
2015-08-20
Citation
Nature, 2015, 526 (7571), pp.68-74
ISSN
0028-0836
Publisher
Nature Publishing Group
Start Page
68
End Page
74
Journal / Book Title
Nature
Volume
526
Issue
7571
Copyright Statement
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported licence. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons licence, users will need to obtain permission from the licence holder to reproduce the material. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc-sa/3.0/.
Subjects
Science & Technology
Multidisciplinary Sciences
Science & Technology - Other Topics
GENOME-WIDE ASSOCIATION
COMPLEMENT FACTOR-H
MACULAR DEGENERATION
POPULATION HISTORY
BAYES FACTORS
MUTATION
DISEASE
VARIANT
SUSCEPTIBILITY
INDIVIDUALS
Datasets as Topic
Demography
Disease Susceptibility
Exome
Genetic Variation
Genetics, Medical
Genetics, Population
Genome, Human
Genome-Wide Association Study
Genomics
Genotype
Haplotypes
High-Throughput Nucleotide Sequencing
Humans
INDEL Mutation
Internationality
Physical Chromosome Mapping
Polymorphism, Single Nucleotide
Quantitative Trait Loci
Rare Diseases
Reference Standards
Sequence Analysis, DNA
1000 Genomes Project Consortium
General Science & Technology
MD Multidisciplinary
Publication Status
Published