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

Genome Med. 2018 Mar 28;10(1):25. doi: 10.1186/s13073-018-0531-8.


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 .

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antineoplastic Agents / therapeutic use
  • Biomarkers, Tumor / metabolism
  • Databases, Genetic
  • Genes, Neoplasm
  • Genome, Human*
  • Humans
  • Molecular Sequence Annotation*
  • Mutation / genetics
  • Neoplasms / drug therapy
  • Neoplasms / genetics*
  • Software*


  • Antineoplastic Agents
  • Biomarkers, Tumor