Mutation timing, accumulation, and selection in the male germline shape inheritance risk for developmental disorders
Matthew D. C. Neville, Sonja Neuser, Rashesh Sanghvi, Joseph Christopher et autres
De novo mutations (DNMs) in the paternal germline are a major cause of developmental disorders, but how mutation timing, paternal age, and spermatogonial selection jointly shape transmissible risk within individual fathers is unclear. We combined trio whole-genome sequencing from 167 families with …
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Cell Genomics