Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations

Tamborero Noguera, David; Rubio Pérez, Carlota, 1990-; Déu Pons, Jordi; Schroeder, Michael Philipp, 1986-; Vivancos Prellezo, Ana; Rovira Guerín, Ana; Tusquets Trias de Bes, Ignacio; Albanell Mestres, Joan; Rodon, Jordi; Tabernero Cartula, Josep; Torres, Carmen de; Dienstmann, Rodrigo; González-Pérez, Abel; López Bigas, Núria

doi:http://dx.doi.org/10.1186/s13073-018-0531-8

Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations

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Tamborero D, Rubio-Perez C, Deu-Pons J, Schroeder MP, Vivancos A, Rovira A et al. Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations. Genome Med. 2018 Dec;10(1):25. DOI: 10.1186/s13073-018-0531-8

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.