The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.

ABSTRACT:

Background

The remarkable growth of genome-wide association studies (GWAS) has created a critical need to experimentally validate the disease-associated variants, 90% of which involve non-coding variants.

Methods

To determine how the field is addressing this urgent need, we performed a comprehensive literature review identifying 36,676 articles. These were reduced to 1454 articles through a set of filters using natural language processing and ontology-based text-mining. This was followed by manual curation and cross-referencing against the GWAS catalog, yielding a final set of 286 articles.

Results

We identified 309 experimentally validated non-coding GWAS variants, regulating 252 genes across 130 human disease traits. These variants covered a variety of regulatory me

SUBMITTER: Alsheikh AJ 

PROVIDER: S-EPMC8973751 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature