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@ARTICLE{Shuai:177481,
author = {S. Shuai and PCAWGDrivers and
FunctionalInterpretationWorkingGroup and S. Gallinger and L.
Stein and PCAWGConsortium},
title = {{C}ombined burden and functional impact tests for cancer
driver discovery using {D}river{P}ower.},
journal = {Nature Communications},
volume = {11},
number = {1},
issn = {2041-1723},
address = {[London]},
publisher = {Nature Publishing Group UK},
reportid = {DKFZ-2021-02568},
pages = {734},
year = {2020},
note = {siehe Correction: DKFZ Autoren affiliiert im PCAWG
Consortium: https://inrepo02.dkfz.de/record/212435 /
https://doi.org/10.1038/s41467-022-32343-8},
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.},
keywords = {Algorithms / Genome, Human / Genomics: methods / Humans /
MEF2 Transcription Factors: genetics / Mutation / Mutation
Rate / Neoplasms: genetics / Peptide Elongation Factor 1:
genetics / Receptors, G-Protein-Coupled: genetics / Software
/ Whole Genome Sequencing / ADGRG6 protein, human (NLM
Chemicals) / EEF1A2 protein, human (NLM Chemicals) / MEF2
Transcription Factors (NLM Chemicals) / MEF2B protein, human
(NLM Chemicals) / Peptide Elongation Factor 1 (NLM
Chemicals) / Receptors, G-Protein-Coupled (NLM Chemicals)},
cin = {B080 / B330 / B370 / W610 / HD01 / B060 / B062 / B360 /
B066 / B240 / BE01 / B260 / B063 / W190 / B087},
ddc = {500},
cid = {I:(DE-He78)B080-20160331 / I:(DE-He78)B330-20160331 /
I:(DE-He78)B370-20160331 / I:(DE-He78)W610-20160331 /
I:(DE-He78)HD01-20160331 / I:(DE-He78)B060-20160331 /
I:(DE-He78)B062-20160331 / I:(DE-He78)B360-20160331 /
I:(DE-He78)B066-20160331 / I:(DE-He78)B240-20160331 /
I:(DE-He78)BE01-20160331 / I:(DE-He78)B260-20160331 /
I:(DE-He78)B063-20160331 / I:(DE-He78)W190-20160331 /
I:(DE-He78)B087-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:32024818},
pmc = {pmc:PMC7002750},
doi = {10.1038/s41467-019-13929-1},
url = {https://inrepo02.dkfz.de/record/177481},
}