Consortium, 1000 Genomes Project (September 2015) A global reference for human genetic variation. Nature, 526 (7571). pp. 68-74. ISSN 1476-4687 (Electronic)0028-0836 (Linking)
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.
| Item Type: | Paper |
|---|---|
| Subjects: | bioinformatics bioinformatics > genomics and proteomics > genetics & nucleic acid processing bioinformatics > genomics and proteomics Investigative techniques and equipment > assays > next generation sequencing |
| CSHL Authors: | |
| Communities: | CSHL labs > McCombie lab CSHL labs > Yoon lab |
| Depositing User: | Matt Covey |
| Date: | 30 September 2015 |
| Date Deposited: | 06 Oct 2015 16:22 |
| Last Modified: | 15 Jul 2021 18:55 |
| PMCID: | PMC4750478 |
| Related URLs: | |
| URI: | https://repository.cshl.edu/id/eprint/31908 |
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