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@ARTICLE{Watkins:284953,
author = {T. B. K. Watkins and E. C. Colliver and M. R. Huska and T.
L. Kaufmann and E. L. Lim and C. B. Duncan and K. Haase$^*$
and P. Van Loo and C. Swanton and N. McGranahan and R. F.
Schwarz},
title = {{R}efphase: {M}ulti-sample phasing reveals
haplotype-specific copy number heterogeneity.},
journal = {PLoS Computational Biology},
volume = {19},
number = {10},
issn = {1553-734X},
address = {San Francisco, Calif.},
publisher = {Public Library of Science},
reportid = {DKFZ-2023-02151},
pages = {e1011379},
year = {2023},
abstract = {Most computational methods that infer somatic copy number
alterations (SCNAs) from bulk sequencing of DNA analyse
tumour samples individually. However, the sequencing of
multiple tumour samples from a patient's disease is an
increasingly common practice. We introduce Refphase, an
algorithm that leverages this multi-sampling approach to
infer haplotype-specific copy numbers through multi-sample
phasing. We demonstrate Refphase's ability to infer
haplotype-specific SCNAs and characterise their intra-tumour
heterogeneity, to uncover previously undetected allelic
imbalance in low purity samples, and to identify parallel
evolution in the context of whole genome doubling in a
pan-cancer cohort of 336 samples from 99 tumours.},
cin = {BE01},
ddc = {610},
cid = {I:(DE-He78)BE01-20160331},
pnm = {899 - ohne Topic (POF4-899)},
pid = {G:(DE-HGF)POF4-899},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:37871126},
doi = {10.1371/journal.pcbi.1011379},
url = {https://inrepo02.dkfz.de/record/284953},
}