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

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 g...

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Autores principales: Tamborero, David, Rubio-Perez, Carlota, Deu-Pons, Jordi, Schroeder, Michael P., Vivancos, Ana, Rovira, Ana, Tusquets, Ignasi, Albanell, Joan, Rodon, Jordi, Tabernero, Josep, de Torres, Carmen, Dienstmann, Rodrigo, Gonzalez-Perez, Abel, Lopez-Bigas, Nuria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5875005/
https://www.ncbi.nlm.nih.gov/pubmed/29592813
http://dx.doi.org/10.1186/s13073-018-0531-8
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author Tamborero, David
Rubio-Perez, Carlota
Deu-Pons, Jordi
Schroeder, Michael P.
Vivancos, Ana
Rovira, Ana
Tusquets, Ignasi
Albanell, Joan
Rodon, Jordi
Tabernero, Josep
de Torres, Carmen
Dienstmann, Rodrigo
Gonzalez-Perez, Abel
Lopez-Bigas, Nuria
author_facet Tamborero, David
Rubio-Perez, Carlota
Deu-Pons, Jordi
Schroeder, Michael P.
Vivancos, Ana
Rovira, Ana
Tusquets, Ignasi
Albanell, Joan
Rodon, Jordi
Tabernero, Josep
de Torres, Carmen
Dienstmann, Rodrigo
Gonzalez-Perez, Abel
Lopez-Bigas, Nuria
author_sort Tamborero, David
collection PubMed
description 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s13073-018-0531-8) contains supplementary material, which is available to authorized users.
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spelling pubmed-58750052018-04-02 Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations Tamborero, David Rubio-Perez, Carlota Deu-Pons, Jordi Schroeder, Michael P. Vivancos, Ana Rovira, Ana Tusquets, Ignasi Albanell, Joan Rodon, Jordi Tabernero, Josep de Torres, Carmen Dienstmann, Rodrigo Gonzalez-Perez, Abel Lopez-Bigas, Nuria Genome Med Database 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1186/s13073-018-0531-8) contains supplementary material, which is available to authorized users. BioMed Central 2018-03-28 /pmc/articles/PMC5875005/ /pubmed/29592813 http://dx.doi.org/10.1186/s13073-018-0531-8 Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Database
Tamborero, David
Rubio-Perez, Carlota
Deu-Pons, Jordi
Schroeder, Michael P.
Vivancos, Ana
Rovira, Ana
Tusquets, Ignasi
Albanell, Joan
Rodon, Jordi
Tabernero, Josep
de Torres, Carmen
Dienstmann, Rodrigo
Gonzalez-Perez, Abel
Lopez-Bigas, Nuria
Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations
title Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations
title_full Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations
title_fullStr Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations
title_full_unstemmed Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations
title_short Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations
title_sort cancer genome interpreter annotates the biological and clinical relevance of tumor alterations
topic Database
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5875005/
https://www.ncbi.nlm.nih.gov/pubmed/29592813
http://dx.doi.org/10.1186/s13073-018-0531-8
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