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Improving the prediction of the functional impact of cancer mutations by baseline tolerance transformation

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dc.contributor.author González-Pérez, Abel
dc.contributor.author Déu Pons, Jordi
dc.contributor.author López Bigas, Núria
dc.date.accessioned 2013-11-28T11:32:13Z
dc.date.available 2013-11-28T11:32:13Z
dc.date.issued 2012
dc.identifier.citation Gonzalez-Perez A, Deu-Pons J, López-Bigas N. Improving the prediction of the functional impact of cancer mutations by baseline tolerance transformation. Genome Med. 2012;4(11):89. DOI: 10.1186/gm390
dc.identifier.issn 1756-994X
dc.identifier.uri http://hdl.handle.net/10230/21311
dc.description.abstract High-throughput prioritization of cancer-causing mutations (drivers) is a key challenge of cancer genome projects, due to the number of somatic variants detected in tumors. One important step in this task is to assess the functional impact of tumor somatic mutations. A number of computational methods have been employed for that purpose, although most were originally developed to distinguish disease-related nonsynonymous single nucleotide variants (nsSNVs) from polymorphisms. Our new method, transformed Functional Impact score for Cancer (transFIC), improves the assessment of the functional impact of tumor nsSNVs by taking into account the baseline tolerance of genes to functional variants.
dc.description.sponsorship We acknowledge funding from the Spanish Ministry of Science and Technology (grant number SAF2009-06954) and the Spanish National Institute of Bioinformatics (INB).
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher BioMed Central
dc.relation.ispartof Genome Medicine. 2012;4(11):89
dc.rights © Gonzalez-Perez et al. Creative Commons Attribution License
dc.rights.uri http://creativecommons.org/licenses/by/2.0/
dc.title Improving the prediction of the functional impact of cancer mutations by baseline tolerance transformation
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1186/gm390
dc.relation.projectID info:eu-repo/grantAgreement/ES/3PN/SAF2009-06954
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion


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