Gene4Denovo2: an updated platform for human de novo mutations discovery and interpretation.

ABSTRACT: De novo mutations (DNMs) drive evolution and increase biodiversity, yet concurrently act as a cryptic cause of numerous genetic diseases. Here, we present Gene4Denovo2 (https://genemed.tech/gene4denovo2/), an updated version of the Gene4Denovo, aiming to provide a more comprehensive DNM datasets and their interpretations. The key improvements include the following: (i) We have substantially expanded the number and scope of DNMs, associated samples, and phenotypes. Specifically, Gene4Denovo2 now contains 1 626 050 DNMs from 130 439 individuals across 96 phenotypes. Moreover, clinical information covering nearly 1000 items has been added for 448 096 individuals, including those with DNMs and their unaffected family members. (ii) We have introduced new features to assist in the evaluation of

SUBMITTER: Zhu Z 

PROVIDER: S-EPMC12808551 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature