From GWAS variant to function: A study of ∼148,000 variants for blood cell traits.

ABSTRACT: Genome-wide association studies (GWASs) have identified hundreds of thousands of genetic variants associated with complex diseases and traits. However, most variants are noncoding and not clearly linked to genes, making it challenging to interpret these GWAS signals. We present a systematic variant-to-function study, prioritizing the most likely functional elements of the genome for experimental follow-up, for >148,000 variants identified for hematological traits. Specifically, we developed VAMPIRE: Variant Annotation Method Pointing to Interesting Regulatory Effects, an interactive web application implemented in R Shiny. This tool efficiently integrates and displays information from multiple complementary sources, including epigenomic signatures from blood-cell-relevant tissues or cells,

SUBMITTER: Sun Q 

PROVIDER: S-EPMC8756514 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature