Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations
David Tamborero(Pompeu Fabra University), Carlota Rubio-Pérez(Municipal Institute for Medical Research), Jordi Deu-Pons(Municipal Institute for Medical Research), M. Schroeder(Pompeu Fabra University), Ana Vivancos(Universitat Autònoma de Barcelona), Ana Rovira(Hospital Del Mar), Ignasi Tusquets(Hospital del Mar Research Institute), Joan Albanell(Pompeu Fabra University), Jordi Rodón(Universitat Autònoma de Barcelona), Josep Tabernero(Universitat Autònoma de Barcelona), Carmen de Torres(Hospital Sant Joan de Déu Barcelona), Rodrigo Dienstmann(Universitat Autònoma de Barcelona), Abel González-Pérez(Institute for Research in Biomedicine), Núria López-Bigas(Institute for Research in Biomedicine)
Cited by 554Open Access
Abstract
While tumor genome sequencing has become widely available in clinical and research settings, the interpretation of tumor somatic variants remains an important bottleneck. Here we present the Cancer Genome Interpreter, a versatile platform that automates the interpretation of newly sequenced cancer genomes, annotating the potential of alterations detected in tumors to act as drivers and their possible effect on treatment response. The results are organized in different levels of evidence according to current knowledge, which we envision can support a broad range of oncology use cases. The resource is publicly available at http://www.cancergenomeinterpreter.org .
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