Overview
- V2P predicts disease categories tied to specific DNA variants rather than only labeling mutations as harmful or benign.
- In de-identified patient evaluations, the correct disease-causing variant often appeared within the model’s top 10 ranked candidates.
- Training incorporated extensive catalogs of benign and pathogenic variants alongside disease annotations to boost phenotype-specific accuracy.
- The team highlights potential use in faster genetic diagnostics and in prioritizing genes and pathways for precision therapy development.
- Outputs currently map to broad categories such as nervous system disorders or cancers, with planned refinements for finer disease specificity and added data sources.