Chunk #25 — Impact of rare protein-truncating variants

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Analysis of protein-coding genetic variation in 60,706 humans.

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Using a sub-sampling approach, we show that the discovery of both heterozygous (Figure 5c) and homozygous (Figure 5d) PTVs scales very differently across human populations, with implications for the design of large-scale sequencing studies for the ascertainment of human “knockouts” described below.