In search of rare human variants

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The 1000 Genomes Project has completed its pilot phase, sequencing the whole genomes of 179 individuals and characterizing all the protein-coding sequences of many others. Welcome to the third phase of human genomics. See Article p.1061 This issue of Nature contains the first publication from The 1000 Genomes Project, an international collaboration that will produce an extensive public catalogue of human genetic variation. The plan, in fact, is to sequence about 2,000 unidentified individuals from 20 populations around the world. This first paper presents the results from the project's pilot phase, testing three different strategies for genome-wide sequencing with high-throughput platforms: low-coverage whole-genome sequencing of 179 individuals in three population groups, high-coverage sequencing of two mother–father–child trios, and exon-targeted sequencing of 697 individuals from seven populations.