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SVclone: inferring structural variant cancer cell fraction

View ORCID ProfileMarek Cmero, View ORCID ProfileCheng Soon Ong, Ke Yuan, Jan Schröder, Kangbo Mo, PCAWG Evolution and Heterogeneity Working Group, Niall M. Corcoran, View ORCID ProfileAnthony Troy Papenfuss, Christopher M. Hovens, Florian Markowetz, Geoff Macintyre
doi: https://doi.org/10.1101/172486
Marek Cmero
1 Royal Melbourne Hospital and University of Melbourne, Parkville, Australia;
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  • For correspondence: cmerom@gmail.com
Cheng Soon Ong
2 Data61, Canberra, Australia;
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Ke Yuan
3 Cancer Research UK Cambridge Institute, University of Cambridge, Cambridge;
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Jan Schröder
4 The Walter and Eliza Hall Institute of Medical Research;
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Kangbo Mo
5 The University of Melbourne, Parkville, Australia;
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6 -;
Niall M. Corcoran
1 Royal Melbourne Hospital and University of Melbourne, Parkville, Australia;
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Anthony Troy Papenfuss
4 The Walter and Eliza Hall Institute of Medical Research;
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Christopher M. Hovens
1 Royal Melbourne Hospital and University of Melbourne, Parkville, Australia;
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Florian Markowetz
7 University of Cambridge
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  • For correspondence: florian.markowetz@cruk.cam.ac.uk
Geoff Macintyre
3 Cancer Research UK Cambridge Institute, University of Cambridge, Cambridge;
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  • For correspondence: geoff.macintyre@cruk.cam.ac.uk
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Abstract

We present SVclone, a computational method for inferring the cancer cell fraction of structural variant breakpoints from whole-genome sequencing data. We validate our approach using simulated and real tumour samples, and demonstrate its utility on 2,778 whole-genome sequenced tumours. We find a subset of liver, breast and ovarian cancer cases with decreased overall survival that have subclonally enriched copy-number neutral rearrangements, an observation that could not be discovered with currently available methods.

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Posted August 04, 2017.
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SVclone: inferring structural variant cancer cell fraction
Marek Cmero, Cheng Soon Ong, Ke Yuan, Jan Schröder, Kangbo Mo, PCAWG Evolution and Heterogeneity Working Group, Niall M. Corcoran, Anthony Troy Papenfuss, Christopher M. Hovens, Florian Markowetz, Geoff Macintyre
bioRxiv 172486; doi: https://doi.org/10.1101/172486
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SVclone: inferring structural variant cancer cell fraction
Marek Cmero, Cheng Soon Ong, Ke Yuan, Jan Schröder, Kangbo Mo, PCAWG Evolution and Heterogeneity Working Group, Niall M. Corcoran, Anthony Troy Papenfuss, Christopher M. Hovens, Florian Markowetz, Geoff Macintyre
bioRxiv 172486; doi: https://doi.org/10.1101/172486

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