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

Tamborero D1,2, Rubio-Perez C1, Deu-Pons J1,2, Schroeder MP1,3, Vivancos A4, Rovira A5,6, Tusquets I5,6,7, Albanell J5,6,8, Rodon J4, Tabernero J4, de Torres C9, Dienstmann R4, Gonzalez-Perez A1,2, Lopez-Bigas N10,11,12.

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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 .