No association between genetic ancestry and exome sequencing-based diagnosis of inborn errors of metabolism.

The Kolmogorov–Smirnov (KS) test (Table 1 ) revealed a nominally significant discrepancy in the distributions of exome-positive versus exome-negative cases of South Asian and Native American ancestries (reduced diagnostic yield associated with South Asian genetic ancestry, increased diagnostic yield associated with Native American genetic ancestry), however neither of these was significant after adjustment for multiple testing.

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We examined whether higher F coefficients were associated with newborns that were homozygous vs compound heterozygous for exome positive outcomes using logistic regression, which was highly significant with a p -value less than 0.0001 (Table 2 ), strongly suggesting that those with homozygous pathogenic alleles were often due to consanguinity.

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