Landscape of parental postzygotic mutations across >11,000 rare disease trios

Garcia-Salinas et al. detect early parental postzygotic mutations from standard-depth trio WGS across 12,015 rare disease trios, identifying 1,015 high-confidence events. Their catalog reveals distinct mutational features of early embryonic mutagenesis and demonstrates that parental mosaicism can be recovered at scale with implications for diagnosis and recurrence risk.