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Chunk #43 — Results — Mutation, recombination and natural selection — Detecting de novo mutations in trio samples

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A map of human genome variation from population-scale sequencing.
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We infer that the remaining vast majority (952 CEU and 633 YRI) of the validated variants were somatic or cell line mutations. The greater number of these validated non-germline mutations in the CEU cell line perhaps reflects the greater age of the CEU cell culture. Across the two trio offspring, we observed a single, synonymous, coding germline mutation, and 17 coding non-germline mutations of which 16 were nonsynonymous, perhaps suggesting selection during cell culture.