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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/10.1101/140475
David Tamborero
1Research Program on Biomedical Informatics (GRIB), IMIM Hospital del Mar Medical, Research Institute and Pompeu Fabra University, Barcelona, Spain
2Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain
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Carlota Rubio-Perez
1Research Program on Biomedical Informatics (GRIB), IMIM Hospital del Mar Medical, Research Institute and Pompeu Fabra University, Barcelona, Spain
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Jordi Deu-Pons
1Research Program on Biomedical Informatics (GRIB), IMIM Hospital del Mar Medical, Research Institute and Pompeu Fabra University, Barcelona, Spain
2Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain
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Michael P Schroeder
1Research Program on Biomedical Informatics (GRIB), IMIM Hospital del Mar Medical, Research Institute and Pompeu Fabra University, Barcelona, Spain
3Charité – Universitätsmedizin Berlin, Germany
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Ana Vivancos
4Vall d’Hebron Institute of Oncology, Vall d’Hebron University Hospital, Autonomous University of Barcelona, Barcelona, Spain
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Ana Rovira
5Medical Oncology Service, Hospital del Mar Medical Research Institute (IMIM), Barcelona, Spain
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Ignasi Tusquets
5Medical Oncology Service, Hospital del Mar Medical Research Institute (IMIM), Barcelona, Spain
6Autonomous University of Barcelona, Barcelona, Spain
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Joan Albanell
5Medical Oncology Service, Hospital del Mar Medical Research Institute (IMIM), Barcelona, Spain
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Jordi Rodon
4Vall d’Hebron Institute of Oncology, Vall d’Hebron University Hospital, Autonomous University of Barcelona, Barcelona, Spain
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Josep Tabernero
4Vall d’Hebron Institute of Oncology, Vall d’Hebron University Hospital, Autonomous University of Barcelona, Barcelona, Spain
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Carmen de Torres
7Developmental Tumor Biology Laboratory, Institut de Recerca Pediàtrica- Hospital Sant Joan de Déu Barcelona, Spain
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Rodrigo Dienstmann
4Vall d’Hebron Institute of Oncology, Vall d’Hebron University Hospital, Autonomous University of Barcelona, Barcelona, Spain
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Abel Gonzalez-Perez
1Research Program on Biomedical Informatics (GRIB), IMIM Hospital del Mar Medical, Research Institute and Pompeu Fabra University, Barcelona, Spain
2Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain
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Nuria Lopez-Bigas
1Research Program on Biomedical Informatics (GRIB), IMIM Hospital del Mar Medical, Research Institute and Pompeu Fabra University, Barcelona, Spain
2Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain
8Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain
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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. Most of the alterations observed in tumors, including those in well-known cancer genes, are of uncertain significance. Moreover, the information on tumor genomic alterations shaping the response to existing therapies is fragmented across the literature and several specialized resources. Here we present the Cancer Genome Interpreter (http://www.cancergenomeinterpreter.org), an open access tool that we have implemented to annotate genomic alterations and interpret their possible role in tumorigenesis and in the response to anti-cancer therapies.

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Posted June 21, 2017.
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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
bioRxiv 140475; doi: https://doi.org/10.1101/140475
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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
bioRxiv 140475; doi: https://doi.org/10.1101/140475

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