The 1000 Genomes Project is a consortium of researchers from more than 75 universities and companies around the world, which aims to map the variation in genomes from people across all continents. From the article in Nature:
The aim of the 1000 Genomes Project is to discover, genotype and provide accurate haplotype information on all forms of human DNA polymorphism in multiple human populations. Specifically, the goal is to characterize over 95% of variants that are in genomic regions accessible to current high-throughput sequencing technologies and that have allele frequency of 1% or higher (the classical definition of polymorphism) in each of five major population groups (populations in or with ancestry from Europe, East Asia, South Asia, West Africa and the Americas).
In a pilot study, they started with low-coverage sequencing of 179 individuals; deep sequencing of six individuals in two trios; and exon sequencing in 697 individuals. In total 15 million single nucleotide polymorphisms, 1 million short insertions and deletions, and 20,000 structural variants were found. Together these account for over 95% of all variation found in all humans. On average, each individual had 250 to 300 loss-of-function variants of genes and 50 to 100 which have previously been linked to inherited disorders. In the next phase results will be explored further and a total of 2,500 individual genomes will be sequenced.
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