Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number.

Eight of 20 genes were nominally associated at p ≤ 0.05 (3 genes at Bonferroni-adjusted p ≤ 0.05, accounting for 20 tests), consistent with highly significant enrichment (exact binomial test p = 2.9 × 10 −6 ; Table S5 ).

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A survey across nine variant sets tested enrichment of putatively causal variants and identified 14 genes at experiment-wide significance and three genes at marginal significance.

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