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Chunk #19 — Founder populations

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The GenomeAsia 100K Project enables genetic discoveries across Asia.
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Population bottlenecks produce strong founder effects and increased rates of recessive disease. In populations with strong founder effects, the loss-of-function variant frequency spectrum is skewed higher, greatly increasing power of association42 and providing unique advantages for the identification of genes associated with both rare and complex diseases43,44. We followed the approach described in a previous study on south Asian populations to characterize the degree to which genomic segments are inherited as identical by descent (IBD) in population groups in our dataset45.