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Patchwork :
Patchwork : allele-specific copy number analysis of whole-genome sequenced tumor tissue
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- Mayrhofer, Markus (författare)
- Uppsala universitet,Cancerfarmakologi och beräkningsmedicin,Science for Life Laboratory, SciLifeLab
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- DiLorenzo, Sebastian (författare)
- Uppsala universitet,Institutionen för medicinska vetenskaper,Science for Life Laboratory, SciLifeLab
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- Isaksson, Anders (författare)
- Uppsala universitet,Cancerfarmakologi och beräkningsmedicin,Science for Life Laboratory, SciLifeLab
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(creator_code:org_t)
- Springer Science and Business Media LLC, 2013
- 2013
- Engelska.
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Ingår i: Genome Biology. - : Springer Science and Business Media LLC. - 1465-6906 .- 1474-760X. ; 14:3, s. R24-
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Abstract
Ämnesord
Stäng
- Whole-genome sequencing of tumor tissue has the potential to provide comprehensive characterization of genomic alterations in tumor samples. We present Patchwork, a new bioinformatic tool for allele-specific copy number analysis using whole-genome sequencing data. Patchwork can be used to determine the copy number of homologous sequences throughout the genome, even in aneuploid samples with moderate sequence coverage and tumor cell content. No prior knowledge of average ploidy or tumor cell content is required. Patchwork is freely available as an R package, installable via R-Forge (http://patchwork.r-forge.r-project.org/).
Nyckelord
- Cancer
- allele-specific copy number analysis
- whole-genome sequencing
- aneuploidy
- tumor heterogeneity
- chromothripsis
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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