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Inferring structura...
Inferring structural variant cancer cell fraction
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- Cmero, Marek (author)
- Royal Melbourne Hospital,University of Melbourne
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- Yuan, Ke (author)
- University of Glasgow
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- Ong, Cheng Soon (author)
- University of Melbourne
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- Schröder, Jan (author)
- Walter and Eliza Hall Institute of Medical Research
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- Corcoran, Niall M (author)
- University of Melbourne,Royal Melbourne Hospital
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- Papenfuss, Tony (author)
- Walter and Eliza Hall Institute of Medical Research
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- Hovens, Christopher M (author)
- Royal Melbourne Hospital
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- Markowetz, Florian (author)
- University of Cambridge
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- Macintyre, Geoff (author)
- University of Melbourne
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- Borg, Åke (creator_code:cre_t)
- Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Familjär bröstcancer,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Familial Breast Cancer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments
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- Ringnér, Markus (creator_code:cre_t)
- Lund University,Lunds universitet,Molekylär cellbiologi,Biologiska institutionen,Naturvetenskapliga fakulteten,Molecular Cell Biology,Department of Biology,Faculty of Science
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- Staaf, Johan (creator_code:cre_t)
- Lund University,Lunds universitet,Forskningsgrupp Lungcancer,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Bröst/lungcancer,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Research Group Lung Cancer,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Breast/lungcancer,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine
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- 2020-02-05
- 2020
- English 15 s.
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11
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Abstract
Subject headings
Close
- We 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- Algorithms
- Computational Biology/methods
- Computer Simulation
- DNA Copy Number Variations
- Female
- Gene Frequency
- Genome, Human
- Humans
- Liver Neoplasms/genetics
- Male
- Neoplasms/genetics
- Ovarian Neoplasms/genetics
- Pancreatic Neoplasms/genetics
- Prostatic Neoplasms/genetics
- Sensitivity and Specificity
- Whole Genome Sequencing
Publication and Content Type
- art (subject category)
- ref (subject category)
Find in a library
To the university's database
- By the author/editor
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Cmero, Marek
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Yuan, Ke
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Ong, Cheng Soon
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Schröder, Jan
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Corcoran, Niall ...
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Papenfuss, Tony
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Hovens, Christop ...
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Markowetz, Flori ...
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Macintyre, Geoff
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Borg, Åke
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Ringnér, Markus
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Staaf, Johan
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Nature Communica ...
- By the university
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Lund University
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Karolinska Institutet