All articles tagged with #de novo mutations
A large whole-exome sequencing study of 3,964 individuals with OCD and chronic tic disorders (including 2,418 trios) finds enrichment of de novo and rare damaging coding variants and identifies 36 high-confidence risk genes using the TADA framework, expanding the genetic landscape beyond previously known genes and highlighting cross-disorder overlap and pathways related to synaptic biology.
Researchers sequencing the genomes of Chernobyl cleanup workers and others exposed to ionizing radiation found clusters of new mutations in their children, with the strongest signal tied to paternal exposure. The findings suggest a potential transgenerational signature, but the estimated increase in genetic-disease risk is small and results come with uncertainties and validation challenges. More extensive studies, like the ongoing TRIO project, are planned to clarify the effect.