Open access
Sep 2026
Mutation timing, accumulation, and selection in the male germline shape inheritance risk for developmental disorders.
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 deep targeted NanoSeq...
M. Neville, S. Neuser, R. Sanghvi et al.
· Cell Genomics · 0 citations