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Article

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

American journal of human genetics - 6 Aug 2026

Garcia-Salinas O Isaac, Andrews Katrina A, Sanghvi Rashesh, Sayer John A, Torra I Benach Maria, Pham My H, Scally Aylwyn, Martin Hilary C, Rahbari Raheleh

Abstract excerpt

Early postzygotic mutations (PZMs) that arise after fertilization but prior to primordial germ cell specification may be present in both somatic and germ cells, causing mosaicism in a parent and constitutive inheritance in their offspring. In clinical family-trio whole-genome sequencing (WGS), such variants are systematically missed because their sub-heterozygous variant allele fraction (VAF) prevents...

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Source

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Identifiers

PMID: 42442367
DOI: 10.1016/j.ajhg.2026.06.015
PMCID: PMC13504344

Genes

DYNC1H1
GC
WT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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