NcVarDB: a manually curated database for pathogenic non-coding variants and benign controls.

ABSTRACT: Variants within the non-coding genome are frequently associated with phenotypes in genome-wide association studies. These non-coding regions may be involved in the regulation of gene expression, encode functional non-coding RNAs, or influence splicing and other cellular functions. We have curated a list of characterized non-coding human genome variants based on the published evidence that indicates phenotypic consequences of the variation. In order to minimize annotation errors, two curators have independently verified the supporting evidence for pathogenicity of each non-coding variant in the published literature. The database consists of 721 non-coding variants linked to the published literature describing the evidence of functional consequences. We have also sampled 7228 covariate-match

SUBMITTER: Biggs H 

PROVIDER: S-EPMC7706182 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature