Scientists at the Icahn School of Medicine at Mount Sinai have created V2P (Variant to Phenotype), an innovative AI tool that not only detects harmful genetic mutations but also predicts the exact diseases they cause. This advancement, published December 15 in Nature Communications, transforms genetic diagnostics and accelerates treatments for rare and complex conditions.
Traditional tools identify pathogenic variants but cannot specify disease types. V2P bridges this gap using advanced machine learning to connect DNA changes with clinical outcomes.
How V2P Works: From DNA Variant to Disease Prediction
V2P analyzes genetic variants against vast databases of harmful and benign mutations, incorporating disease data for precise predictions. In real patient tests, it ranked true disease-causing variants among the top 10 candidates, dramatically speeding diagnosis.
First author David Stein explains, “V2P pinpoints patient-relevant genetic changes instead of sifting through thousands of variants, improving speed and accuracy.”
The tool currently classifies mutations into categories like nervous system disorders or cancers, with plans to predict specific diseases and integrate multi-omics data.
Beyond Diagnostics: Fueling Precision Medicine and Drug Discovery
Co-senior author Dr. Avner Schlessinger highlights V2P’s research potential: “It identifies genes and pathways linked to specific diseases, guiding genetically tailored therapies — especially for rare conditions.”
Dr. Yuval Itan adds, “V2P clarifies how genetic changes cause disease, prioritizing research targets and enabling personalized interventions based on individual genomic profiles.”
This represents a major step toward precision medicine, matching treatments to patients’ unique genetic signatures.
Real-World Impact: Faster Diagnoses, Better Therapies
For patients with mysterious symptoms or rare diseases, V2P could slash diagnostic timelines from years to days. Clinicians gain clear priorities for genetic testing, while researchers discover novel drug targets more efficiently.
The study’s rigorous validation on de-identified patient data demonstrates V2P’s clinical readiness and scalability across healthcare systems.
V2P marks a pivotal advance in genomic medicine, bridging the gap between genetic discovery and clinical action. By predicting disease outcomes from DNA variants, it promises faster diagnoses, personalized treatments, and accelerated drug development for millions worldwide.
Q&A: Understanding V2P’s Transformative Potential
Q: What makes V2P different from existing genetic tools?
A: It predicts specific disease types from mutations, not just whether they’re harmful.
Q: How accurate is V2P in real patient cases?
A: It ranked true disease-causing variants in the top 10 candidates during validation tests.
Q: Which diseases can V2P currently identify?
A: Broad categories like neurological disorders, cancers, with expansion to specific diseases planned.
Q: How will V2P impact rare disease patients?
A: Faster, more accurate diagnoses enable earlier, targeted treatments.
Frequently Asked Questions (FAQ)
Q1: What does “Variant to Phenotype” (V2P) mean?
A1: It translates genetic variants (DNA changes) into phenotypes (disease traits/symptoms).
Q2: Who developed V2P and where was it published?
A2: Icahn School of Medicine at Mount Sinai researchers; Nature Communications (Dec 15, 2025).
Q3: Can V2P help drug development?
A3: Yes, by identifying disease-linked genes/pathways for targeted therapies.
Q4: Is V2P ready for clinical use?
A4: Validated on real patient data; refinement continues for broader implementation.
Q5: What are V2P’s future improvements?
A5: Specific disease prediction, multi-omics integration, enhanced drug discovery applications.
