The purpose of the project is to support the discovery and understanding of genetic variants that influence human disease. Specifically defined goals are (a) the discovery of single nucleotide variants at frequencies of 1% or higher in diverse populations, (b) even more comprehensive discovery (variants down to frequencies of 0.1 - 0.5%) in functional gene regions, and (c) discovery of structural variants, such as copy number variants, other insertions and deletions, and inversions, including sequence-level understanding of breakpoints.

The volume of data generated by 1000genomes project is unprecedented.

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