Oncogenicity Variant Interpreter (OncoVI) Supports Harmonized Somatic Variant Interpretation in Precision Oncology.
Summary
The Oncogenicity Variant Interpreter (OncoVI) is an open-source, Python-based tool developed to harmonize and automate the oncogenicity classification of somatic variants in precision oncology. It implements guidelines from the Clinical Genome Resource/Cancer Genomics Consortium/Variant Interpretation for Cancer Consortium, performing functional annotation and evidence collection from public resources. OncoVI achieved 80% accuracy on a gold standard set of 93 somatic variants and showed 79% concordance with Molecular Tumor Board assessments on 7802 real-world variants. This tool aims to support reproducible and standardized somatic variant interpretation across institutions.
Analysis
OncoVI represents a significant advancement for precision oncology by addressing the critical need for accurate and reproducible interpretation of somatic variants, which is fundamental for therapy decision-making. By automating this process according to established guidelines, it reduces inter-institutional variability and enhances the efficiency of molecular tumor boards. OncoVI's ability to integrate public data and provide standardized classification will facilitate the adoption of personalized medicine and the comparison of clinical outcomes, thereby accelerating translational research and improving patient care.