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Chunk #5 — Data set overview

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A global reference for human genetic variation.
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>1% (Extended Data Fig. 2). At lower frequencies, comparison with >60,000 European haplotypes from the Haplotype Reference Consortium9 suggests 75% power to detect SNPs with frequency of 0.1%. Furthermore, we estimate heterozygous genotype accuracy at 99.4% for SNPs and 99.0% for indels (Supplementary Table 4), a threefold reduction in error rates compared to our previous release2, resulting from the larger sample size, improvements in sequence data accuracy, and genotype calling and phasing algorithms.