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ExpansionHunter Denovo: A computational method for locating known and novel repeat expansions in short-read sequencing data
View ORCID ProfileEgor Dolzhenko, View ORCID ProfileMark F. Bennett, Phillip A. Richmond, Brett Trost, Sai Chen, Joke J.F.A. van Vugt, Charlotte Nguyen, Giuseppe Narzisi, Vladimir G. Gainullin, Andrew Gross, Bryan Lajoie, Ryan J. Taft, Wyeth W. Wasserman, Stephen W. Scherer, View ORCID ProfileJan H. Veldink, David R. Bentley, R.K.C. Yuen, Melanie Bahlo, View ORCID ProfileMichael A. Eberle
doi: https://doi.org/10.1101/863035
Egor Dolzhenko
1Illumina Inc., 5200 Illumina Way, San Diego, CA 92122, USA
Mark F. Bennett
2Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville VIC 3052, Australia
3Department of Medical Biology, The University of Melbourne, 1G Royal Parade, Parkville VIC 3052, Australia
4Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, 245 Burgundy Street, Heidelberg VIC 3084, Australia
Phillip A. Richmond
5Centre for Molecular Medicine and Therapeutics, BC Children’s Hospital, University of British Columbia, Vancouver, BC V5Z 4H4, Canada
Brett Trost
6Genetics and Genome Biology, The Hospital for Sick Children, University of Toronto, 686 Bay Street, Toronto, ON M5G 0A4, Canada
7The Center for Applied Genomics, The Hospital for Sick Children, University of Toronto, 686 Bay Street, Toronto, ON M5G 0A4, Canada
Sai Chen
1Illumina Inc., 5200 Illumina Way, San Diego, CA 92122, USA
Joke J.F.A. van Vugt
8Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands
Charlotte Nguyen
6Genetics and Genome Biology, The Hospital for Sick Children, University of Toronto, 686 Bay Street, Toronto, ON M5G 0A4, Canada
7The Center for Applied Genomics, The Hospital for Sick Children, University of Toronto, 686 Bay Street, Toronto, ON M5G 0A4, Canada
9Department of Molecular Genetics, University of Toronto, 1 King’s College Circle, Toronto, ON M5S 2E5, Canada
Giuseppe Narzisi
10New York Genome Center, 101 Avenue of the Americas, New York 10013, USA
Vladimir G. Gainullin
1Illumina Inc., 5200 Illumina Way, San Diego, CA 92122, USA
Andrew Gross
1Illumina Inc., 5200 Illumina Way, San Diego, CA 92122, USA
Bryan Lajoie
1Illumina Inc., 5200 Illumina Way, San Diego, CA 92122, USA
Ryan J. Taft
1Illumina Inc., 5200 Illumina Way, San Diego, CA 92122, USA
Wyeth W. Wasserman
5Centre for Molecular Medicine and Therapeutics, BC Children’s Hospital, University of British Columbia, Vancouver, BC V5Z 4H4, Canada
Stephen W. Scherer
6Genetics and Genome Biology, The Hospital for Sick Children, University of Toronto, 686 Bay Street, Toronto, ON M5G 0A4, Canada
7The Center for Applied Genomics, The Hospital for Sick Children, University of Toronto, 686 Bay Street, Toronto, ON M5G 0A4, Canada
9Department of Molecular Genetics, University of Toronto, 1 King’s College Circle, Toronto, ON M5S 2E5, Canada
11The McLaughlin Centre, University of Toronto, 686 Bay Street, Toronto, ON M5G 0A4, Canada
Jan H. Veldink
8Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands
David R. Bentley
12Illumina Cambridge Ltd, Illumina Centre, 19 Granta Park, Great Abington, Cambridge CB21 6DF, UK
R.K.C. Yuen
6Genetics and Genome Biology, The Hospital for Sick Children, University of Toronto, 686 Bay Street, Toronto, ON M5G 0A4, Canada
7The Center for Applied Genomics, The Hospital for Sick Children, University of Toronto, 686 Bay Street, Toronto, ON M5G 0A4, Canada
9Department of Molecular Genetics, University of Toronto, 1 King’s College Circle, Toronto, ON M5S 2E5, Canada
Melanie Bahlo
2Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville VIC 3052, Australia
3Department of Medical Biology, The University of Melbourne, 1G Royal Parade, Parkville VIC 3052, Australia
Michael A. Eberle
1Illumina Inc., 5200 Illumina Way, San Diego, CA 92122, USA
Posted December 03, 2019.
ExpansionHunter Denovo: A computational method for locating known and novel repeat expansions in short-read sequencing data
Egor Dolzhenko, Mark F. Bennett, Phillip A. Richmond, Brett Trost, Sai Chen, Joke J.F.A. van Vugt, Charlotte Nguyen, Giuseppe Narzisi, Vladimir G. Gainullin, Andrew Gross, Bryan Lajoie, Ryan J. Taft, Wyeth W. Wasserman, Stephen W. Scherer, Jan H. Veldink, David R. Bentley, R.K.C. Yuen, Melanie Bahlo, Michael A. Eberle
bioRxiv 863035; doi: https://doi.org/10.1101/863035
ExpansionHunter Denovo: A computational method for locating known and novel repeat expansions in short-read sequencing data
Egor Dolzhenko, Mark F. Bennett, Phillip A. Richmond, Brett Trost, Sai Chen, Joke J.F.A. van Vugt, Charlotte Nguyen, Giuseppe Narzisi, Vladimir G. Gainullin, Andrew Gross, Bryan Lajoie, Ryan J. Taft, Wyeth W. Wasserman, Stephen W. Scherer, Jan H. Veldink, David R. Bentley, R.K.C. Yuen, Melanie Bahlo, Michael A. Eberle
bioRxiv 863035; doi: https://doi.org/10.1101/863035
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