Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/207742
Title: | Combined burden and functional impact tests for cancer driver discovery using DriverPower |
Author: | Shuai, Shimin PCAWG Drivers and Functional Interpretation Working Group Gallinger, Steven Stein, Lincoln D. PCAWG Consortium Deu-Pons, Jordi Frigola, Joan Gonzalez-Perez, 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 |
Keywords: | Processament de dades Càncer Genòmica Data processing Cancer Genomics |
Issue Date: | 5-Feb-2020 |
Publisher: | Nature Publishing Group |
Abstract: | 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. |
Note: | Reproducció del document publicat a: https://doi.org/https://doi.org/10.1038/s41467-019-13929-1 |
It is part of: | Nature Communications, 2020, vol. 11, num.1, p. 1-12 |
URI: | http://hdl.handle.net/2445/207742 |
Related resource: | https://doi.org/https://doi.org/10.1038/s41467-019-13929-1 |
ISSN: | 2041-1723 |
Appears in Collections: | Articles publicats en revistes (Fonaments Clínics) Articles publicats en revistes (Institut de Recerca Biomèdica (IRB Barcelona)) Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer) |
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