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oai:recercat.cat:2445/2077422025-12-05T05:43:30Zcom_2072_1057col_2072_478824col_2072_478858col_2072_478908col_2072_478917

Combined burden and functional impact tests for cancer driver discovery using DriverPower Shuai, Shimin PCAWG Drivers and Functional Interpretation Working Group Gallinger, Steven Stein, Lincoln D. PCAWG Consortium Deu-Pons, Jordi Frigola, Joan González-Pérez, Abel Muiños, Ferran Mularoni, Loris Pich, Oriol Reyes-Salazar, Iker Rubio-Perez, Carlota Sabarinathan, Radhakrishnan Tamborero, David Aymerich Gregorio, Marta Campo Güerri, Elias López Guillermo, Armando Gelpi Buchaca, Josep Lluís Rabionet Janssen, Raquel Processament de dades Càncer Genòmica Data processing Cancer Genomics The discovery of driver mutations is one of the key motivations for cancer genome sequencing. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2658 cancers across 38 tumour types, we describe DriverPower, a software package that uses mutational burden and functional impact evidence to identify driver mutations in coding and non-coding sites within cancer whole genomes. Using a total of 1373 genomic features derived from public sources, DriverPower’s background mutation model explains up to 93% of the regional variance in the mutation rate across multiple tumour types. By incorporating functional impact scores, we are able to further increase the accuracy of driver discovery. Testing across a collection of 2583 cancer genomes from the PCAWG project, DriverPower identifies 217 coding and 95 non-coding driver candidates. Comparing to six published methods used by the PCAWG Drivers and Functional Interpretation Working Group, DriverPower has the highest F1 score for both coding and non-coding driver discovery. This demonstrates that DriverPower is an effective framework for computational driver discovery. 2024-02-19T15:10:37Z 2024-02-19T15:10:37Z 2020-02-05 2024-02-19T15:10:37Z info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion 2041-1723 https://hdl.handle.net/2445/207742 728365 eng Reproducció del document publicat a: https://doi.org/https://doi.org/10.1038/s41467-019-13929-1 Nature Communications, 2020, vol. 11, num.1, p. 1-12 https://doi.org/https://doi.org/10.1038/s41467-019-13929-1 cc-by (c) Shuai, S. et al., 2020 http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess 12 p. application/pdf Nature Publishing Group Articles publicats en revistes (Fonaments Clínics)