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Chunk #15 — Insights into mutation processes

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Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.
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A hallmark of human genetic variation is that SNVs tend to cluster together throughout the genome3,28. Such patterns of clustering contain important information about demographic history29, signals of natural selection30 and processes that generate mutations31. To dissect the spatial clustering of SNVs, we analysed a collection of 50,264,223 singleton SNVs ascertained in a subset of 3,000 unrelated individuals selected to have low levels of genetically estimated admixture—1,000 each of African, East Asian and European ancestry32 (see Methods).