A harmonized meta-knowledgebase of clinical interpretations of cancer genomic variants
Alex Handler Wagner, Brian Walsh, Georgia Mayfield, David Tamborero, Dmitriy Sonkin, Kilannin Krysiak, Jordi Deu-Pons, Ryan P. Duren, Jianjiong Gao, Julie A. McMurry, Sara E. Patterson, Catherine Del Vecchio Fitz, Beth A. Pitel, Osman Uğur Sezerman, Kyle Ellrott, , Adam A. Margolin
The paper harmonizes clinical interpretations of cancer genomic variants across six knowledgebases, improving overlap and matching with patient cohorts.
Nature Genetics · Apr 1, 2020Peer-reviewedBioinformatics