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

2025-10-19 genetic and genomic medicine Title + abstract only
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Postzygotic mutations (PZMs) arising post-fertilisation, prior to primordial germ cell specification, may be subsequently inherited by both somatic and germ cells, causing somatic mosaicism in the parent as well as being passed to offspring. These early embryonic mutations often go undetected in clinical sequencing due to their low variant allele fraction (VAF) and are typically excluded by standard variant filtering pipelines. To overcome this limitation, we developed a bioinformatic approach t...

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