Nucleic Acids ResJClub
VarNexus: an integrative database for interpreting disease-associated regulatory variants through multimodal predictions and functional evidence.
Nucleic Acids Research · · Journal Article
Gong, Tan + more
Abstract ↗AI summary
The abstract is read at the publisher; the summary is JClub's.
VarNexus integrates 230 404 fine-mapped candidate variants across 1891 disease-related phenotypes from UK Biobank and FinnGen with multimodal predictions and functional evidence.
- Why it matters: Non-coding GWAS risk variants are hard to interpret because sequence-to-function models lack experimental support, while QTLs and MPRAs have limited genomic coverage.
- What they did: VarNexus links precomputed AlphaGenome predictions across 11 regulatory output types with bulk and single-cell xQTLs, MPRA measurements, and GWAS-eQTL colocalization results.
- The result: The database supports cross-linked searches and on-demand predictions, enabling prioritization of candidate regulatory mechanisms supported by multiple evidence layers.
The findingWhy it mattersWhat they didThe result