Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes.

After normalizing for the difference in sequence context between the datatypes, we found a difference in the proportion of a 5′ CCG 3′ → 5′CTG 3′ mutational signature that was nominally significant in our South Asian ancestry study compared to those from the European studies (ratio 1.35, p = 0.0044) (Fig. 3b ).

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