The method, called V2P (Variant to Phenotype), is designed to accelerate genetic diagnostics and aid in the discovery of new treatments for complex and rare diseases. The findings were reported in the December 15 online issue of Nature Communications.

How V2P advances genetic diagnostics

Current genetic analysis tools can estimate whether a mutation is harmful, but they cannot determine the type of disease it might cause. V2P fills that gap by using advanced machine learning to link genetic variants with their likely phenotypic outcomes—that is, the diseases or traits a mutation might cause—effectively predicting how a patient’s DNA could influence their health.