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GRIDSS: sensitive and specific genomic rearrangement detection using positional de Bruijn graph assembly

Daniel L Cameron, Jan Schroeder, Jocelyn Sietsma Penington, Hongdo Do, Ramyar Molania, View ORCID ProfileAlexander Dobrovic, View ORCID ProfileTerence P Speed, View ORCID ProfileAnthony T Papenfuss
doi: https://doi.org/10.1101/110387
Daniel L Cameron
1Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia
2Department of Medical Biology, University of Melbourne, Parkville, Victoria, 3010, Australia
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Jan Schroeder
1Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia
2Department of Medical Biology, University of Melbourne, Parkville, Victoria, 3010, Australia
3Department of Computing and Information Systems, The University of Melbourne, Melbourne, Australia
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Jocelyn Sietsma Penington
1Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia
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Hongdo Do
4Translational Genomics and Epigenomics Laboratory, Olivia Newton-John Cancer Research Institute, Heidelberg, Victoria, 3084, Australia
5Department of Pathology, University of Melbourne, Parkville, Victoria, 3010, Australia
6School of Cancer Medicine, La Trobe University, Bundoora, Victoria, 3084, Australia
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Ramyar Molania
4Translational Genomics and Epigenomics Laboratory, Olivia Newton-John Cancer Research Institute, Heidelberg, Victoria, 3084, Australia
7Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia
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Alexander Dobrovic
4Translational Genomics and Epigenomics Laboratory, Olivia Newton-John Cancer Research Institute, Heidelberg, Victoria, 3084, Australia
5Department of Pathology, University of Melbourne, Parkville, Victoria, 3010, Australia
6School of Cancer Medicine, La Trobe University, Bundoora, Victoria, 3084, Australia
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  • ORCID record for Alexander Dobrovic
Terence P Speed
1Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia
8Department of Mathematics and Statistics, University of Melbourne, VIC 3010, Australia
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  • ORCID record for Terence P Speed
Anthony T Papenfuss
1Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia
2Department of Medical Biology, University of Melbourne, Parkville, Victoria, 3010, Australia
8Department of Mathematics and Statistics, University of Melbourne, VIC 3010, Australia
9Peter MacCallum Cancer Centre, Victorian Comprehensive Cancer Centre, Melbourne, 3000, Australia
10Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Victoria, 3010, Australia
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  • ORCID record for Anthony T Papenfuss
  • For correspondence: papenfuss@wehi.edu.au
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Article Information

doi 
https://doi.org/10.1101/110387
History 
  • February 21, 2017.
Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY 4.0 International license.

Author Information

  1. Daniel L Cameron1,2,
  2. Jan Schroeder1,2,3,
  3. Jocelyn Sietsma Penington1,
  4. Hongdo Do4,5,6,
  5. Ramyar Molania4,7,
  6. Alexander Dobrovic4,5,6,
  7. Terence P Speed1,8 and
  8. Anthony T Papenfuss1,2,8,9,10,*
  1. 1Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, 3052, Australia
  2. 2Department of Medical Biology, University of Melbourne, Parkville, Victoria, 3010, Australia
  3. 3Department of Computing and Information Systems, The University of Melbourne, Melbourne, Australia
  4. 4Translational Genomics and Epigenomics Laboratory, Olivia Newton-John Cancer Research Institute, Heidelberg, Victoria, 3084, Australia
  5. 5Department of Pathology, University of Melbourne, Parkville, Victoria, 3010, Australia
  6. 6School of Cancer Medicine, La Trobe University, Bundoora, Victoria, 3084, Australia
  7. 7Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia
  8. 8Department of Mathematics and Statistics, University of Melbourne, VIC 3010, Australia
  9. 9Peter MacCallum Cancer Centre, Victorian Comprehensive Cancer Centre, Melbourne, 3000, Australia
  10. 10Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Victoria, 3010, Australia
  1. ↵*Author to whom correspondence should be addressed: Anthony T Papenfuss, email: papenfuss{at}wehi.edu.au
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Posted February 21, 2017.
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GRIDSS: sensitive and specific genomic rearrangement detection using positional de Bruijn graph assembly
Daniel L Cameron, Jan Schroeder, Jocelyn Sietsma Penington, Hongdo Do, Ramyar Molania, Alexander Dobrovic, Terence P Speed, Anthony T Papenfuss
bioRxiv 110387; doi: https://doi.org/10.1101/110387
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GRIDSS: sensitive and specific genomic rearrangement detection using positional de Bruijn graph assembly
Daniel L Cameron, Jan Schroeder, Jocelyn Sietsma Penington, Hongdo Do, Ramyar Molania, Alexander Dobrovic, Terence P Speed, Anthony T Papenfuss
bioRxiv 110387; doi: https://doi.org/10.1101/110387

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