Observed versus expected numbers of de novo mutations and inherited heteroplasmies.

(A) Somatic and germline mutations in mothers. (B) Somatic and germline mutations in pups. (C) Inherited heteroplasmies. p-Values were calculated with a two-sided binomial test. The actual sequence of the two pedigrees (including one insertion compared with the reference sequence) was used. The observed numbers of variants and the numbers expected under random and neutral expectations (based on the frequency at specific sites) are shown. (D, E) One-sided binomial test to test whether mutation frequencies observed in the D-loop are significantly greater than expected by chance.
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