Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease.

ABSTRACT:

Background

De novo mutations (DNMs) are variants that occur anew in the offspring of noncarrier parents. They are not inherited from either parent but rather result from endogenous mutational processes involving errors of DNA repair/replication. These spontaneous errors play a significant role in the causation of genetic disorders, and their importance in the context of molecular diagnostic medicine has become steadily more apparent as more DNMs have been reported in the literature. In this study, we examined 46,489 disease-associated DNMs annotated by the Human Gene Mutation Database (HGMD) to ascertain their distribution across gene and disease categories.

Results

Most disease-associated DNMs reported to date are found to be associated with developmental and psychiatric di

SUBMITTER: Lopes-Marques M 

PROVIDER: S-EPMC10885371 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature