Precision Medicine Intelligence - evidence scoring evaluating the clinical actionability of BRAF V600E in multiple...

With the ever-increasing growth of next-generation sequencing literature, how can researchers and clinicians assess clinical actionability and utility and objectively assign confidence to gene variant-phenotype associations? This article presents an informatics solution for clinical interpretation of patient-derived genomic and molecular data containing manually curated scientific evidence supporting gene variant-disease and -drug response phenotypes in somatic cancers. An algorithm for direct evidence scoring will be used to demonstrate the diverse utility of BRAF V600E in treating many common cancers.