Open AccessDECO: a framework for jointly analyzing de novo and rare case/control variants, and biological pathways
Author(s) -
Tan-Hoang Nguyen,
Xin He,
Ruth C. Brown,
Bradley T. Webb,
Kenneth S. Kendler,
Vladimir I. Vladimirov,
Brien P. Riley,
SilviuAlin Bacanu
Publication year - 2021
Publication title -
briefings in bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.204
H-Index - 113
eISSN - 1477-4054
pISSN - 1467-5463
DOI - 10.1093/bib/bbab067
Subject(s) - gene , computational biology , set (abstract data type) , genetics , biology , computer science , programming language
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.