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Chunk #54 — Discussion

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A map of human genome variation from population-scale sequencing.
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Data from the pilot projects are already informing medical genetic studies. As shown in our analysis of prior eQTL datasets, a more complete catalogue of genetic variation can identify signals previously missed and dramatically increase the number of identified candidate functional alleles at each locus. Project data have been used to impute over 6 million genetic variants into GWAS, for traits as diverse as smoking46 and multiple sclerosis47, as an exclusionary filter in Mendelian disease studies48 and tumor sequencing studies, and to design the next generation of genotyping arrays.