Computational approaches to identify functional genetic variants in cancer genomes

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• dc.contributor.author González-Pérez, Abel
• dc.contributor.author López Bigas, Núria
• dc.date.accessioned 2019-01-31T09:19:50Z
• dc.date.available 2019-01-31T09:19:50Z
• dc.date.issued 2013
• dc.description.abstract The International Cancer Genome Consortium (ICGC) aims to catalog genomic abnormalities in tumors from 50 different cancer types. Genome sequencing reveals hundreds to thousands of somatic mutations in each tumor but only a minority of these drive tumor progression. We present the result of discussions within the ICGC on how to address the challenge of identifying mutations that contribute to oncogenesis, tumor maintenance or response to therapy, and recommend computational techniques to annotate somatic variants and predict their impact on cancer phenotype.
• dc.format.mimetype application/pdf
• dc.identifier.citation Gonzalez-Perez A, Mustonen V, Reva B, Ritchie GR, Creixell P, Karchin R et al. Computational approaches to identify functional genetic variants in cancer genomes. Nat Methods. 2013;10(8):723-9. DOI: 10.1038/nmeth.2562
• dc.identifier.doi http://dx.doi.org/10.1038/nmeth.2562
• dc.identifier.issn 1548-7091
• dc.identifier.uri http://hdl.handle.net/10230/36463
• dc.language.iso eng
• dc.publisher Nature Research
• dc.relation.ispartof Nature Methods. 2013;10(8):723-9
• dc.rights © Springer Nature Publishing AG. Gonzalez-Perez A, Mustonen V, Reva B, Ritchie GR, Creixell P, Karchin R et al. Computational approaches to identify functional genetic variants in cancer genomes. Nat Methods. 2013; 10(8):723-9. DOI 10.1038/nmeth.2562 [http://dx.doi.org/10.1038/nmeth.2562]
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.subject.keyword Cancer genomics
• dc.subject.keyword Computational biology and bioinformatics
• dc.subject.keyword Genetic variation
• dc.subject.keyword Sequence annotation
• dc.title Computational approaches to identify functional genetic variants in cancer genomes
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/acceptedVersion