Rare coding and noncoding variants map 1,342 diseases and biomarkers in 490,549 whole genomes
Analyzing half a million genomes reveals thousands of disease-gene links, many pointing toward undiscovered drug targets and prevention strategies.
Using whole genome sequencing from nearly 500,000 UK Biobank participants, researchers mapped rare coding and noncoding variant associations across 1,342 diseases and biomarkers, finding over 49,000 significant gene-trait pairs. Many noncoding associations were novel and enriched in drug target pathways.
What the study was
- Study design
- Genome-wide association analysis (PheWAS)
- Population
- UK Biobank WGS participants
- Sample size
- 490549
- Category
- Genomics/Precision Medicine
- Maturity
- Exploratory
- Journal
- medRxiv
Why it surfaced
Massive-scale WGS PheWAS with novel noncoding variant discoveries enriched in drug targets. Interactive portal at staarphewas.org. Preprint cap applied.
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