DECO: a framework for jointly analyzing de novo and rare case/control variants, and biological pathways.

ABSTRACT: Rare variant-based analyses are beginning to identify risk genes for neuropsychiatric disorders and other diseases. However, the identified genes only account for a fraction of predicted causal genes. Recent studies have shown that rare damaging variants are significantly enriched in specific gene-sets. Methods which are able to jointly model rare variants and gene-sets to identify enriched gene-sets and use these enriched gene-sets to prioritize additional risk genes could improve understanding of the genetic architecture of diseases. We propose DECO (Integrated analysis of de novo mutations, rare case/control variants and omics information via gene-sets), an integrated method for rare-variant and gene-set analysis. The method can (i) test the enrichment of gene-sets directly within the s

SUBMITTER: Nguyen TH 

PROVIDER: S-EPMC8425460 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature