A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer

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,...

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Veröffentlicht in:	Nature genetics 2020-04, Vol.52 (4), p.448-457
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	631/67 692/308/2056 Agriculture Analysis Animal Genetics and Genomics Biomarkers Biomedical and Life Sciences Biomedicine Cancer Cancer Research Databases, Genetic Diploidy Gene Function Genetic Variation - genetics Genomics Genomics - methods Human Genetics Humans Kinases Knowledge Bases Knowledge bases (artificial intelligence) Medicin och hälsovetenskap Neoplasms - genetics Oncology Ontology Precision medicine Precision Medicine - methods
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