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@ARTICLE{Whalley:163954,
author = {J. P. Whalley and I. Buchhalter$^*$ and E. Rheinbay and K.
M. Raine and M. D. Stobbe and K. Kleinheinz$^*$ and J.
Werner and S. Beltran and M. Gut and D. Hübschmann$^*$ and
B. Hutter$^*$ and D. Livitz and M. D. Perry and M. Rosenberg
and G. Saksena and J.-R. Trotta and R. Eils and D. S.
Gerhard and P. J. Campbell and M. Schlesner$^*$ and I. G.
Gut},
title = {{F}ramework for quality assessment of whole genome cancer
sequences.},
journal = {Nature Communications},
volume = {11},
number = {1},
issn = {2041-1723},
address = {[London]},
publisher = {Nature Publishing Group UK},
reportid = {DKFZ-2020-02167},
pages = {5040},
year = {2020},
abstract = {Bringing together cancer genomes from different projects
increases power and allows the investigation of pan-cancer,
molecular mechanisms. However, working with whole genomes
sequenced over several years in different sequencing centres
requires a framework to compare the quality of these
sequences. We used the Pan-Cancer Analysis of Whole Genomes
cohort as a test case to construct such a framework. This
cohort contains whole cancer genomes of 2832 donors from 18
sequencing centres. We developed a non-redundant set of five
quality control (QC) measurements to establish a star rating
system. These QC measures reflect known differences in
sequencing protocol and provide a guide to downstream
analyses and allow for exclusion of samples of poor quality.
We have found that this is an effective framework of quality
measures. The implementation of the framework is available
at:
$https://dockstore.org/containers/quay.io/jwerner_dkfz/pancanqc:1.2.2$
.},
cin = {B080 / W610 / G200 / B330 / B240},
ddc = {500},
cid = {I:(DE-He78)B080-20160331 / I:(DE-He78)W610-20160331 /
I:(DE-He78)G200-20160331 / I:(DE-He78)B330-20160331 /
I:(DE-He78)B240-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:33028839},
doi = {10.1038/s41467-020-18688-y},
url = {https://inrepo02.dkfz.de/record/163954},
}