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Chunk #1 — Data generation and variant discovery

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Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
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filters (18), resulting in a final data set of 503,481 SNVs identified in 15,585 genes and 22.38 Mb of targeted sequence per individual. We assessed data quality and error rates by several orthogonal methods (18). About 98% (941/961) of all variant sites that were experimentally tested were confirmed, including 98% (234/238) of singletons, 98% (678/693) of nonsingleton SNV sites with a MAF < 10%, and 97% (29/30) of SNV sites with a MAF ≥ 10%.