000180877 001__ 180877 000180877 005__ 20240320150835.0 000180877 0247_ $$2doi$$a10.1038/s41467-020-14351-8 000180877 0247_ $$2pmid$$apmid:32024845 000180877 0247_ $$2pmc$$apmc:PMC7002525 000180877 0247_ $$2altmetric$$aaltmetric:75092332 000180877 037__ $$aDKFZ-2022-01626 000180877 041__ $$aEnglish 000180877 082__ $$a500 000180877 1001_ $$aCmero, Marek$$b0 000180877 245__ $$aInferring structural variant cancer cell fraction. 000180877 260__ $$a[London]$$bNature Publishing Group UK$$c2020 000180877 3367_ $$2DRIVER$$aarticle 000180877 3367_ $$2DataCite$$aOutput Types/Journal article 000180877 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1710943634_5840 000180877 3367_ $$2BibTeX$$aARTICLE 000180877 3367_ $$2ORCID$$aJOURNAL_ARTICLE 000180877 3367_ $$00$$2EndNote$$aJournal Article 000180877 500__ $$asiehe Correction: DKFZ Autoren affiliiert im PCAWG Consortium:https://inrepo02.dkfz.de/record/212436 / https://doi.org/10.1038/s41467-022-32338-5 000180877 520__ $$aWe present SVclone, a computational method for inferring the cancer cell fraction of structural variant (SV) breakpoints from whole-genome sequencing data. SVclone accurately determines the variant allele frequencies of both SV breakends, then simultaneously estimates the cancer cell fraction and SV copy number. We assess performance using in silico mixtures of real samples, at known proportions, created from two clonal metastases from the same patient. We find that SVclone's performance is comparable to single-nucleotide variant-based methods, despite having an order of magnitude fewer data points. As part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) consortium, which aggregated whole-genome sequencing data from 2658 cancers across 38 tumour types, we use SVclone to reveal a subset of liver, ovarian and pancreatic cancers with subclonally enriched copy-number neutral rearrangements that show decreased overall survival. SVclone enables improved characterisation of SV intra-tumour heterogeneity. 000180877 536__ $$0G:(DE-HGF)POF4-312$$a312 - Funktionelle und strukturelle Genomforschung (POF4-312)$$cPOF4-312$$fPOF IV$$x0 000180877 588__ $$aDataset connected to CrossRef, PubMed, , Journals: inrepo02.dkfz.de 000180877 650_2 $$2MeSH$$aAlgorithms 000180877 650_2 $$2MeSH$$aComputational Biology: methods 000180877 650_2 $$2MeSH$$aComputer Simulation 000180877 650_2 $$2MeSH$$aDNA Copy Number Variations 000180877 650_2 $$2MeSH$$aFemale 000180877 650_2 $$2MeSH$$aGene Frequency 000180877 650_2 $$2MeSH$$aGenome, Human 000180877 650_2 $$2MeSH$$aHumans 000180877 650_2 $$2MeSH$$aLiver Neoplasms: genetics 000180877 650_2 $$2MeSH$$aLiver Neoplasms: pathology 000180877 650_2 $$2MeSH$$aMale 000180877 650_2 $$2MeSH$$aNeoplasms: genetics 000180877 650_2 $$2MeSH$$aNeoplasms: pathology 000180877 650_2 $$2MeSH$$aOvarian Neoplasms: genetics 000180877 650_2 $$2MeSH$$aOvarian Neoplasms: pathology 000180877 650_2 $$2MeSH$$aPancreatic Neoplasms: genetics 000180877 650_2 $$2MeSH$$aPancreatic Neoplasms: pathology 000180877 650_2 $$2MeSH$$aProstatic Neoplasms: genetics 000180877 650_2 $$2MeSH$$aProstatic Neoplasms: pathology 000180877 650_2 $$2MeSH$$aSensitivity and Specificity 000180877 650_2 $$2MeSH$$aWhole Genome Sequencing 000180877 7001_ $$aYuan, Ke$$b1 000180877 7001_ $$aOng, Cheng Soon$$b2 000180877 7001_ $$aSchröder, Jan$$b3 000180877 7001_ $$aPCAWG, Evolution$$b4 000180877 7001_ $$0P:(DE-HGF)0$$aHeterogeneity Working, Group$$b5 000180877 7001_ $$aCorcoran, Niall M$$b6 000180877 7001_ $$aPapenfuss, Tony$$b7 000180877 7001_ $$aHovens, Christopher M$$b8 000180877 7001_ $$aMarkowetz, Florian$$b9 000180877 7001_ $$aMacintyre, Geoff$$b10 000180877 7001_ $$0P:(DE-HGF)0$$aPCAWGConsortium$$b11 000180877 773__ $$0PERI:(DE-600)2553671-0$$a10.1038/s41467-020-14351-8$$gVol. 11, no. 1, p. 730$$n1$$p730$$tNature Communications$$v11$$x2041-1723$$y2020 000180877 909CO $$ooai:inrepo02.dkfz.de:180877$$pVDB 000180877 9131_ $$0G:(DE-HGF)POF4-312$$1G:(DE-HGF)POF4-310$$2G:(DE-HGF)POF4-300$$3G:(DE-HGF)POF4$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lKrebsforschung$$vFunktionelle und strukturelle Genomforschung$$x0 000180877 9141_ $$y2020 000180877 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bNAT COMMUN : 2019$$d2021-02-02 000180877 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2021-02-02 000180877 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2021-02-02 000180877 915__ $$0StatID:(DE-HGF)0320$$2StatID$$aDBCoverage$$bPubMed Central$$d2021-02-02 000180877 915__ $$0StatID:(DE-HGF)0501$$2StatID$$aDBCoverage$$bDOAJ Seal$$d2021-02-02 000180877 915__ $$0StatID:(DE-HGF)0500$$2StatID$$aDBCoverage$$bDOAJ$$d2021-02-02 000180877 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bDOAJ : Peer review$$d2021-02-02 000180877 915__ $$0LIC:(DE-HGF)CCBYNV$$2V:(DE-HGF)$$aCreative Commons Attribution CC BY (No Version)$$bDOAJ$$d2021-02-02 000180877 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2021-02-02 000180877 915__ $$0StatID:(DE-HGF)1030$$2StatID$$aDBCoverage$$bCurrent Contents - 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