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Chunk #26 — Heterozygosity and rare variant sharing

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Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.
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As expected, African American and Caribbean population groups have the greatest heterozygosity7,47, followed by Hispanic/Latino, European American, Amish, East Asian and Samoan groups. This is consistent with a gradual loss of heterozygosity tracking the recent African origin of modern humans and subsequent migration from Africa to the rest of the globe47,48. The Asian population groups have among the lowest heterozygosity in our sample (even lower than the Amish, a European ancestry founder population with notably low heterozygosity49,50), but also the greatest singleton counts (in contrast to the Amish, who have the lowest; see Supplementary Information 1.8).