title: Precision Medicine Intelligence - evidence scoring evaluating the clinical actionability of BRAF V600E in multiple non-melanoma solid tumors.
abstract: 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.
authors.affiliation: Thomson Reuters, Boston, Massachusetts, USA. albert.crescenzo@thomsonreuters.com.
authors.forename: A
authors.initials: A
authors.lastname: Crescenzo
mesh_terms: D000465:Algorithms; D000818:Animals; D019295:Computational Biology; D019317:Evidence-Based Medicine / Q000379:methods*; D014644:Genetic Variation; D006801:Humans; D009369:Neoplasms / Q000188:drug therapy* / Q000201:enzymology* / Q000235:genetics; D057285:Precision Medicine / Q000379:methods*; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics / Q000378:metabolism*
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
keywords: BRAF V600E; Precision medicine