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Chunk #41 — 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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Deep sequencing of individuals within a pedigree offers the potential to detect de novo germline mutation events. Our approach was to allow a relatively high false discovery rate in an initial screen to capture a large fraction of true events, then use a second technology to rule out false positive mutations.