Genome Medicine (Mar 2018)

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

  • David Tamborero,
  • Carlota Rubio-Perez,
  • Jordi Deu-Pons,
  • Michael P. Schroeder,
  • Ana Vivancos,
  • Ana Rovira,
  • Ignasi Tusquets,
  • Joan Albanell,
  • Jordi Rodon,
  • Josep Tabernero,
  • Carmen de Torres,
  • Rodrigo Dienstmann,
  • Abel Gonzalez-Perez,
  • Nuria Lopez-Bigas

DOI
https://doi.org/10.1186/s13073-018-0531-8
Journal volume & issue
Vol. 10, no. 1
pp. 1 – 8

Abstract

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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.