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Title:
Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations | Genome Medicine
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 .
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cancer, cgi, tumor, clinical, genes, alterations, tumors, mutations, pubmed, biomarkers, article, variants, genomic, drug, response, additional, data, file, note, google, scholar, genome, database, research, fig, evidence, types, barcelona, sequenced, results, catalog, cas, central, driver, type, cell, information, interpretation, analysis, number, genomes, resources, validated, carcinoma, potential, significance, mutation, cohort, spain, including,
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josep tabernero nuria lopez-bigas acute lymphocytic leukemia carmen de torres analyzing protein-affecting mutations tumor genome sequencing genome-guided therapeutic actionability genome sequencing data cancer genome interpreter protein-coding genetic variation semi-automatic pipeline annotates structured clinical-grade mutations carlota rubio-perez project saf2015-74072-jin funded article download pdf pompeu fabra university genomic-guided clinical trial hebron university hospital rodrigo dienstmann cancer genome atlas powering precision medicine generalitat de catalunya related subjects author information authors sequencing large cohorts cancer genome projects colorectal cancers bearing machine-learning oncodrivemut approach including cancer-predisposing variants joan albanell privacy choices/manage cookies exome-sequencing data user-friendly interactive framework anti-cancer drug response article tamborero including pre-clinical data luad lung adenocarcinoma rubio-perez creative commons license translational research setting driver analysis pipeline explore potential drug blca bladder carcinoma esca esophageal carcinoma thca thyroid carcinoma anti-cancer therapies interpret cancer genomes small insertions/deletions small molecules interacting oncology research settings
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headline:Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations
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
.
datePublished:2018-03-28T00:00:00Z
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Tumor Genome Sequencing
Affecting Cancer Genes
NPM1-mutated Acute Myeloid Leukemia
Immune Checkpoint Blockade Agents
Human Genetics
Metabolomics
Bioinformatics
Medicine/Public Health
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Systems Biology
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headline:Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations
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
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Tumor Genome Sequencing
Affecting Cancer Genes
NPM1-mutated Acute Myeloid Leukemia
Immune Checkpoint Blockade Agents
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name:Department of Oncology, Hospital del Mar- CIBERONC
address:
name:Department of Oncology, Hospital del Mar- CIBERONC, Barcelona, Spain
type:PostalAddress
type:Organization
name:Autonomous University of Barcelona
address:
name:Autonomous University of Barcelona, Barcelona, Spain
type:PostalAddress
type:Organization
name:Joan Albanell
affiliation:
name:Hospital del Mar Medical Research Institute (IMIM)
address:
name:Hospital del Mar Medical Research Institute (IMIM), Barcelona, Spain
type:PostalAddress
type:Organization
name:Department of Oncology, Hospital del Mar- CIBERONC
address:
name:Department of Oncology, Hospital del Mar- CIBERONC, Barcelona, Spain
type:PostalAddress
type:Organization
name:Pompeu Fabra University
address:
name:Pompeu Fabra University, Barcelona, Spain
type:PostalAddress
type:Organization
name:Jordi Rodon
affiliation:
name:Vall dâHebron University Hospital, Autonomous University of Barcelona
address:
name:Vall dâHebron Institute of Oncology, Vall dâHebron University Hospital, Autonomous University of Barcelona, Barcelona, Spain
type:PostalAddress
type:Organization
name:Josep Tabernero
affiliation:
name:Vall dâHebron University Hospital, Autonomous University of Barcelona
address:
name:Vall dâHebron Institute of Oncology, Vall dâHebron University Hospital, Autonomous University of Barcelona, Barcelona, Spain
type:PostalAddress
type:Organization
name:Carmen de Torres
affiliation:
name:Developmental Tumor Biology Laboratory, Institut de Recerca Pedià trica- Hospital Sant Joan de Déu Barcelona
address:
name:Developmental Tumor Biology Laboratory, Institut de Recerca Pedià trica- Hospital Sant Joan de Déu Barcelona, Barcelona, Spain
type:PostalAddress
type:Organization
name:Rodrigo Dienstmann
affiliation:
name:Vall dâHebron University Hospital, Autonomous University of Barcelona
address:
name:Vall dâHebron Institute of Oncology, Vall dâHebron University Hospital, Autonomous University of Barcelona, Barcelona, Spain
type:PostalAddress
type:Organization
name:Abel Gonzalez-Perez
affiliation:
name:IMIM Hospital del Mar Medical, Research Institute and Pompeu Fabra University
address:
name:Research Program on Biomedical Informatics (GRIB), IMIM Hospital del Mar Medical, Research Institute and Pompeu Fabra University, Barcelona, Spain
type:PostalAddress
type:Organization
name:Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology
address:
name:Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain
type:PostalAddress
type:Organization
name:Nuria Lopez-Bigas
affiliation:
name:IMIM Hospital del Mar Medical, Research Institute and Pompeu Fabra University
address:
name:Research Program on Biomedical Informatics (GRIB), IMIM Hospital del Mar Medical, Research Institute and Pompeu Fabra University, Barcelona, Spain
type:PostalAddress
type:Organization
name:Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology
address:
name:Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain
type:PostalAddress
type:Organization
name:Institució Catalana de Recerca i Estudis Avançats (ICREA)
address:
name:Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain
type:PostalAddress
type:Organization
email:[email protected]
PostalAddress:
name:Research Program on Biomedical Informatics (GRIB), IMIM Hospital del Mar Medical, Research Institute and Pompeu Fabra University, Barcelona, Spain
name:Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain
name:Research Program on Biomedical Informatics (GRIB), IMIM Hospital del Mar Medical, Research Institute and Pompeu Fabra University, Barcelona, Spain
name:Research Program on Biomedical Informatics (GRIB), IMIM Hospital del Mar Medical, Research Institute and Pompeu Fabra University, Barcelona, Spain
name:Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain
name:Research Program on Biomedical Informatics (GRIB), IMIM Hospital del Mar Medical, Research Institute and Pompeu Fabra University, Barcelona, Spain
name:CharitĂ© â UniversitĂ€tsmedizin Berlin, Berlin, Germany
name:Vall dâHebron Institute of Oncology, Vall dâHebron University Hospital, Autonomous University of Barcelona, Barcelona, Spain
name:Hospital del Mar Medical Research Institute (IMIM), Barcelona, Spain
name:Department of Oncology, Hospital del Mar- CIBERONC, Barcelona, Spain
name:Hospital del Mar Medical Research Institute (IMIM), Barcelona, Spain
name:Department of Oncology, Hospital del Mar- CIBERONC, Barcelona, Spain
name:Autonomous University of Barcelona, Barcelona, Spain
name:Hospital del Mar Medical Research Institute (IMIM), Barcelona, Spain
name:Department of Oncology, Hospital del Mar- CIBERONC, Barcelona, Spain
name:Pompeu Fabra University, Barcelona, Spain
name:Vall dâHebron Institute of Oncology, Vall dâHebron University Hospital, Autonomous University of Barcelona, Barcelona, Spain
name:Vall dâHebron Institute of Oncology, Vall dâHebron University Hospital, Autonomous University of Barcelona, Barcelona, Spain
name:Developmental Tumor Biology Laboratory, Institut de Recerca Pedià trica- Hospital Sant Joan de Déu Barcelona, Barcelona, Spain
name:Vall dâHebron Institute of Oncology, Vall dâHebron University Hospital, Autonomous University of Barcelona, Barcelona, Spain
name:Research Program on Biomedical Informatics (GRIB), IMIM Hospital del Mar Medical, Research Institute and Pompeu Fabra University, Barcelona, Spain
name:Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain
name:Research Program on Biomedical Informatics (GRIB), IMIM Hospital del Mar Medical, Research Institute and Pompeu Fabra University, Barcelona, Spain
name:Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain
name:Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain
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