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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Detalles Bibliográficos
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:
Database
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
Descripción
Sumario: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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