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@ARTICLE{Schrinner:890802,
author = {Schrinner, Sven D. and Mari, Rebecca Serra and Ebler, Jana
and Rautiainen, Mikko and Seillier, Lancelot and Reimer,
Julia J. and Usadel, Björn and Marschall, Tobias and Klau,
Gunnar W.},
title = {{H}aplotype threading: accurate polyploid phasing from long
reads},
journal = {Genome biology},
volume = {21},
number = {1},
issn = {1474-760X},
address = {London},
publisher = {BioMed Central},
reportid = {FZJ-2021-01210},
pages = {252},
year = {2020},
note = {Grant name:de.NBI - Etablierungsphase: Leistungszentrum
GCBN – Deutsches BioGreenformatics-Netzwerk für
Kulturpflanzen, BMBF 031A536C},
abstract = {Resolving genomes at haplotype level is crucial for
understanding the evolutionary history of polyploid species
and for designing advanced breeding strategies. Polyploid
phasing still presents considerable challenges, especially
in regions of collapsing haplotypes.We present WhatsHap
polyphase, a novel two-stage approach that addresses these
challenges by (i) clustering reads and (ii) threading the
haplotypes through the clusters. Our method outperforms the
state-of-the-art in terms of phasing quality. Using a real
tetraploid potato dataset, we demonstrate how to assemble
local genomic regions of interest at the haplotype level.
Our algorithm is implemented as part of the widely used open
source tool WhatsHap.},
cin = {IBG-4},
ddc = {570},
cid = {I:(DE-Juel1)IBG-4-20200403},
pnm = {899 - ohne Topic (POF3-899)},
pid = {G:(DE-HGF)POF3-899},
typ = {PUB:(DE-HGF)16},
pubmed = {32951599},
UT = {WOS:000574470900001},
doi = {10.1186/s13059-020-02158-1},
url = {https://juser.fz-juelich.de/record/890802},
}