Article

Mutation timing, accumulation and selection in the male germline shape inheritance risk for developmental disorders

2026-04-10

Abstract excerpt

De novo mutations (DNMs) arising in the parental germline are a major cause of severe developmental disorders. While most DNMs originate in the paternal germline, it remains unclear whether fathers of affected children carry a systematically altered burden of transmissible germline risk, or whether disease largely reflects stochastic outcomes of shared population-wide mutational processes. Here, we combined whole-...

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Literature Corpus work: fd186cef-3c36-528a-8e8b-47ea0295e252
DOI: 10.64898/2026.04.09.26350474

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