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Literature DB >> 23181723

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

Abel Gonzalez-Perez¹, Jordi Deu-Pons¹, Nuria Lopez-Bigas².

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.

Entities: Chemical Disease Gene Mutation Species

Year: 2012 PMID： 23181723 PMCID： PMC4064314 DOI： 10.1186/gm390

Source DB: PubMed Journal: Genome Med ISSN： 1756-994X Impact factor: 11.117

51 in total

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