RAVAR: a curated repository for rare variant-trait associations.

ABSTRACT: Rare variants contribute significantly to the genetic causes of complex traits, as they can have much larger effects than common variants and account for much of the missing heritability in genome-wide association studies. The emergence of UK Biobank scale datasets and accurate gene-level rare variant-trait association testing methods have dramatically increased the number of rare variant associations that have been detected. However, no systematic collection of these associations has been carried out to date, especially at the gene level. To address the issue, we present the Rare Variant Association Repository (RAVAR), a comprehensive collection of rare variant associations. RAVAR includes 95 047 high-quality rare variant associations (76186 gene-level and 18 861 variant-level association

SUBMITTER: Cao C 

PROVIDER: S-EPMC10767942 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature