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.
Keywords: BRAF V600E; Precision medicine.
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