The impact of ancestral, genetic, and environmental influences on germline de novo mutation rates and spectra.

ABSTRACT: De novo germline mutation is an important factor in the evolution of allelic diversity and disease predisposition in a population. Here, we study the influence of genetically-inferred ancestry and environmental factors on de novo mutation rates and spectra. Using a genetically diverse sample of ~10 K whole-genome sequenced trios, one of the largest de novo mutation catalogues to date, we found that genetically-inferred ancestry is associated with modest but significant changes in both germline mutation rate and spectra across continental populations. These effects may be due to genetic or environmental factors correlated with ancestry. We find epidemiological evidence that cigarette smoking is significantly associated with increased de novo mutation rate, but it does not mediate the observ

SUBMITTER: Garcia-Salinas OI 

PROVIDER: S-EPMC12081642 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature