Article
A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer.
Nature genetics - 1 Apr 2020
Wagner Alex H, Walsh Brian, Mayfield Georgia, Tamborero David, Sonkin Dmitriy, Krysiak Kilannin, Deu-Pons Jordi, Duren Ryan P, Gao Jianjiong, McMurry Julie, Patterson Sara, Del Vecchio Fitz Catherine, Pitel Beth A, Sezerman Ozman U, Ellrott Kyle, Warner Jeremy L, Rieke Damian T, Aittokallio Tero, Cerami Ethan, Ritter Deborah I, Schriml Lynn M, Freimuth Robert R, Haendel Melissa, Raca Gordana, Madhavan Subha, Baudis Michael, Beckmann Jacques S, Dienstmann Rodrigo, Chakravarty Debyani, Li Xuan Shirley, Mockus Susan, Elemento Olivier, Schultz Nikolaus, Lopez-Bigas Nuria, Lawler Mark, Goecks Jeremy, Griffith Malachi, Griffith Obi L, Margolin Adam A
Abstract excerpt
Precision oncology relies on accurate discovery and interpretation of genomic variants, enabling individualized diagnosis, prognosis and therapy selection. We found that six prominent somatic cancer variant knowledgebases were highly disparate in content, structure and supporting primary literature, impeding consensus when evaluating variants and their relevance in a clinical setting. We developed a framework for...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.