Disease-specific prioritization of non-coding GWAS variants based on chromatin accessibility.

ABSTRACT: Non-protein-coding genetic variants are a major driver of the genetic risk for human disease; however, identifying which non-coding variants contribute to diseases and their mechanisms remains challenging. In silico variant prioritization methods quantify a variant's severity, but for most methods, the specific phenotype and disease context of the prediction remain poorly defined. For example, many commonly used methods provide a single, organism-wide score for each variant, while other methods summarize a variant's impact in certain tissues and/or cell types. Here, we propose a complementary disease-specific variant prioritization scheme, which is motivated by the observation that variants contributing to disease often operate through specific biological mechanisms. We combine tissue/cell

SUBMITTER: Liang Q 

PROVIDER: S-EPMC11259938 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature