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Deciphering genetic variation — 1,092 people at a time

13 November 2012

The 1000 Genomes Project has released the full sequence of 1,092 human genomes from 14 populations in Europe, the Americas, East Asia and Africa. The study, the most comprehensive inventory of human genetic variation to date, detected 1.4 million short insertions or deletions, more than 14,000 larger deletions and a staggering 38 million single nucleotide polymorphisms (SNPs) – locations where the DNA sequence varies by a single base. Scientists say this figure could represent as much as 98% of the accessible SNPs, including rare variants that only affect 1 in 100 individuals in a population. The findings, which appeared this week in Nature, highlight interesting patterns which are already emerging in the data. Individuals from different populations show different profiles of variation for both common and rare variants. Moreover, the rare variants are highly geographically distributed. The sequence data is available open access, providing a powerful resource for the scientific community to investigate the possible role of rare genetic variants in disease and to examine the impact of natural selection on these variants.

The findings are published in The 1000 Genomes Project Consortium, An integrated map of genetic variation from 1,092 human genomes, Nature 491, 56–65 (01 November 2012). doi:10.1038/nature11632
All data files associated with this paper can be found in the 1000 Genomes Project Phase 1 Analysis Results Directory:

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