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Chunk #46 — Results — Mutation, recombination and natural selection — Constraint around genes and the effects of selection on local variation

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A map of human genome variation from population-scale sequencing.
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In contrast, diversity in the immediate vicinity of genes (scaled by divergence) is reduced by approximately 10% relative to sites distant from any gene (Fig 5b). Although a similar reduction has been seen previously in gene dense regions37, project data enable the scale of the effect to be determined. We find that the reduction extends up to 0.1cM away from genes, typically 120 kb, suggesting that selection at linked sites restricts variation relative to neutral levels across the majority of the human genome.