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

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

Author information

1
Research Program on Biomedical Informatics (GRIB), IMIM Hospital del Mar Medical, Research Institute and Pompeu Fabra University, Barcelona, Spain.
2
Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain.
3
Charité - Universitätsmedizin Berlin, Berlin, Germany.
4
Vall d'Hebron Institute of Oncology, Vall d'Hebron University Hospital, Autonomous University of Barcelona, Barcelona, Spain.
5
Hospital del Mar Medical Research Institute (IMIM), Barcelona, Spain.
6
Department of Oncology, Hospital del Mar- CIBERONC, Barcelona, Spain.
7
Autonomous University of Barcelona, Barcelona, Spain.
8
Pompeu Fabra University, Barcelona, Spain.
9
Developmental Tumor Biology Laboratory, Institut de Recerca Pediàtrica- Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.
10
Research Program on Biomedical Informatics (GRIB), IMIM Hospital del Mar Medical, Research Institute and Pompeu Fabra University, Barcelona, Spain. nuria.lopez@irbbarcelona.org.
11
Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain. nuria.lopez@irbbarcelona.org.
12
Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain. nuria.lopez@irbbarcelona.org.

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 .

PMID:
29592813
PMCID:
PMC5875005
DOI:
10.1186/s13073-018-0531-8
[Indexed for MEDLINE]
Free PMC Article

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