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Combined burden and functional impact tests for cancer driver discovery using DriverPower

66Citations signalées — pas une note de qualité
473Institutions déclarées
36Pays d’affiliation déclarés

Résumé fourni par la source

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.

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DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.

Titre Crossref
Combined burden and functional impact tests for cancer driver discovery using DriverPower
Date Crossref
05/02/2020
Éditeur
Springer Science and Business Media LLC
Type
journal-article

Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude et ne compte pas comme une seconde source scientifique indépendante.

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Ontario Institute for Cancer ResearchUniversity of TorontoWellcome Sanger InstituteThe University of Texas MD Anderson Cancer CenterBaylor College of MedicineQuantitative BioSciencesJackson LaboratoryThe Jackson Laboratory for Genomic MedicineBroad InstituteHarvard UniversityDana-Farber/Boston Children's Cancer and Blood Disorders CenterAarhus UniversityAarhus University HospitalRIKEN Center for Integrative Medical SciencesUniversity of BernUniversity of CopenhagenUniversity Hospital of BernNovo Nordisk FoundationTechnical University of DenmarkUniversity of CambridgeCambridge University Hospitals NHS Foundation TrustIcahn School of Medicine at Mount SinaiGerman Cancer Research CenterHeidelberg UniversityKorea Advanced Institute of Science and TechnologyInstitute for Research in BiomedicineCornell UniversityWeill Cornell MedicineUppsala UniversityUniversitat Pompeu FabraScience for Life LaboratoryThe University of QueenslandBarcelona Supercomputing CenterUniversitat Politècnica de CatalunyaUniversidade do PortoEuropean Bioinformatics InstituteUniversity of Milano-BicoccaThe University of MelbournePeter MacCallum Cancer CentreYale UniversityCentre for Genomic RegulationUniversity of California, Santa CruzStanford UniversityMassachusetts General HospitalThe University of Texas Health Science Center at HoustonSimon Fraser UniversityCenter for Cancer ResearchMemorial Sloan Kettering Cancer CenterETH ZurichUniversity Hospital ZurichSIB Swiss Institute of BioinformaticsMassachusetts Institute of TechnologyNational Cancer CenterSamsung (South Korea)Samsung Medical CenterUniversity of California San DiegoSungkyunkwan UniversityEuropean Molecular Biology LaboratoryInstitute of Computer SciencePolish Academy of SciencesUniversity of GothenburgCanada's Michael Smith Genome Sciences CentreBGI Group (China)China National GeneBankHarvard University PressGhent UniversitySangmyung UniversitySpanish National Cancer Research CentrePrinceton UniversityVall d'Hebron Institut de RecercaDana-Farber Cancer InstituteTokyo Medical and Dental UniversityTokyo University of ScienceJapan Science and Technology AgencyThe University of TokyoTallinn University of TechnologySickKids FoundationKarolinska InstitutetInstitució Catalana de Recerca i Estudis AvançatsNorwegian University of Science and TechnologyXi'an Jiaotong UniversityCharité - Universitätsmedizin BerlinOregon Health & Science UniversityChinese University of Hong KongNational Institutes of HealthNational Cancer InstituteUniversity of HoustonNorthwestern UniversityUniversity of ZurichMount Sinai HospitalLunenfeld-Tanenbaum Research InstituteToronto General HospitalUniversity of HelsinkiUniversity of ChicagoKeimyung University Dongsan Medical CenterKeimyung UniversityGachon University Gil Medical CenterHiroshima UniversityKing Faisal Specialist Hospital & Research CentreUniversität HamburgUniversity Medical Center Hamburg-EppendorfLeibniz Institute of Virology (LIV)UC San Diego Health SystemMoores Cancer CenterUniversidade de Santiago de CompostelaCenter for Research in Molecular Medicine and Chronic DiseasesUniversidade de VigoRoyal National Orthopaedic HospitalUniversity College LondonUniversität UlmChristian-Albrechts-Universität zu KielSalford Royal NHS Foundation TrustJames S. McDonnell FoundationTokyo Women's Medical UniversityMolecular Oncology (United States)Los Alamos National LaboratoryUniversity Health NetworkNottingham University Hospitals NHS TrustEpigenomics (Germany)University of North Carolina at Chapel HillVector InstituteOslo University HospitalConsorci Institut D'Investigacions Biomediques August Pi I SunyerUniversitat de BarcelonaUniversity of GlasgowWashington University in St. LouisAlvin J. 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