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Chunk #9 — 410 million genetic variants in 53,831 samples

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Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.
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We identified an average of 3.78 million variants in each genome. Among these, an average of 30,207 (0.8%) were novel and 3,510 (0.1%) were singletons. Among all variants, we observed 3.17 million nonsynonymous and 1.53 million synonymous variants (a 2.1:1 ratio), but individual genomes contained similar numbers of nonsynonymous and synonymous variants (11,743 nonsynonymous and 11,768 synonymous, on average) (Extended Data Table 4). The difference can be explained if more than half of the nonsynonymous variants are removed from the population by natural selection before they become common.