Gene4Denovo

Gene4Denovo provides an integrated database and analytic platform for cataloguing and prioritizing human de novo mutations to support genetic studies of sporadic and neuropsychiatric disorders.

Key Features:

• Comprehensive data integration: Aggregates 580,799 de novo mutations (DNMs), including 30,060 coding DNMs discovered by whole-exome sequencing (WES) and whole-genome sequencing (WGS), from 23,951 individuals across 24 phenotypes.
• Candidate gene prioritization: Ranks candidate genes associated with DNMs using statistical evidence and reports 346 genes with false discovery rate (FDR) below 0.05.
• Extensive annotation sources: Integrates data from over 60 genomic sources to provide variant-level and gene-level annotations.
• Customizable analysis parameters: Supports annotation and candidate-gene prioritization using user-specified analysis parameters.

Scientific Applications:

• Interpretation of DNM pathogenicity: Enables assessment of de novo mutation pathogenicity in human genetic research, particularly for neuropsychiatric disorders.
• Candidate gene discovery in sporadic diseases: Facilitates identification and prioritization of genes implicated in sporadic and neuropsychiatric conditions using aggregated DNM data and statistical ranking.
• Variant- and gene-level annotation for research and clinical interpretation: Provides integrated annotations to inform genetic studies and clinical interpretation of DNMs.

Methodology:

Integrates a dataset of 580,799 DNMs (including 30,060 coding DNMs from WES/WGS) across 23,951 individuals and 24 phenotypes, incorporates annotations from >60 genomic sources at variant and gene level, and performs gene prioritization using statistical evidence with FDR control.