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dc.contributor.author
Shuai, Shimin
dc.contributor.author
PCAWG Drivers and Functional Interpretation Working Group
dc.contributor.author
Gallinger, Steven
dc.contributor.author
Stein, Lincoln
dc.contributor.author
PCAWG Consortium
dc.date.accessioned
2020-02-14T07:44:12Z
dc.date.available
2020-02-14T03:23:19Z
dc.date.available
2020-02-14T07:44:12Z
dc.date.issued
2020-12-01
dc.identifier.issn
2041-1723
dc.identifier.other
10.1038/s41467-019-13929-1
en_US
dc.identifier.uri
http://hdl.handle.net/20.500.11850/399367
dc.identifier.doi
10.3929/ethz-b-000399367
dc.description.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.
en_US
dc.format
application/pdf
en_US
dc.language.iso
en
en_US
dc.publisher
Nature Publishing Group
en_US
dc.rights.uri
http://creativecommons.org/licenses/by/4.0/
dc.title
Combined burden and functional impact tests for cancer driver discovery using DriverPower
en_US
dc.type
Journal Article
dc.rights.license
Creative Commons Attribution 4.0 International
dc.date.published
2020-02-05
ethz.journal.title
Nature Communications
ethz.journal.volume
11
en_US
ethz.journal.issue
1
en_US
ethz.journal.abbreviated
Nat Commun
ethz.pages.start
734
en_US
ethz.size
12 p.
en_US
ethz.version.deposit
publishedVersion
en_US
ethz.identifier.scopus
ethz.publication.place
London
en_US
ethz.publication.status
published
en_US
ethz.date.deposited
2020-02-14T03:23:40Z
ethz.source
SCOPUS
ethz.eth
yes
en_US
ethz.availability
Open access
en_US
ethz.rosetta.installDate
2020-02-14T07:44:22Z
ethz.rosetta.lastUpdated
2020-02-14T07:44:22Z
ethz.rosetta.exportRequired
true
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true
ethz.COinS
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