Reposted by Matthew Neville
for this: What determines the risk of passing a new disease-causing mutation to a child? 🤔
cell.com
Mutation timing, accumulation, and selection in the male germline shape inheritance risk for developmental disorders
Neville et al. combine trio whole-genome sequencing with ultra-accurate sperm sequencing to quantify how de novo mutation timing and selection shape transmittable disease risk. Early embryonic mosaicism can create an uncommon elevated transmission risk, whereas universal age-associated mutation accumulation and spermatogonial selection account for most paternal pathogenic de novo mutations.
