Somatic DiagAI：对药物-变异关联进行自动评分以支持癌症基因组学中的临床决策

Large-scale gene panel sequencing has emerged as a critical tool for identifying tumor biomarkers that guide treatment optimization and clinical trial enrollment in contemporary oncology. However, the rapid evolution of genomic knowledge shows significant challenges for pathologists in maintaining current expertise regarding drug-variant associations and accurately prioritizing clinically actionable genetic alterations. SeqOne has developed somatic DiagAI, a novel machine learning framework designed to systematically prioritize actionable variants by computing a quantitative score (0-100) for each potential drug-variant association. The model integrates four critical parameters: (1) the biological significance of genetic variants, (2) pharmacological characteristics of associated therapeutics, (3) concordance between molecular profiles and approved treatment indications, and (4) patient-specific clinical context. The model quantifies the contribution of each component and generates a score that makes predictions interpretable and traceable.The model was trained and validated using a cohort of 604 patients analyzed via TSO 500 gene panels, with documented clinical indications and expert-curated variant annotations. Variant characterization was enhanced through integration of established databases including JAX-CKB and gnomAD, with clinical interpretation performed according to Compermed guidelines. This approach provides a systematic framework for variant prioritization that addresses the growing complexity of precision oncology decision-making.