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Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Beryl B Cummings, Jamie L Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A. Reghan Foley, Veronique Bolduc, Leigh Waddell, Sarah Sandaradura, Gina O’Grady, Elicia Estrella, Hemakumar M Reddy, Fengmei Zhao, Ben Weisburd, Konrad J Karczewski, Anne H O’Donnell-Luria, Daniel Birnbaum, Anna Sarkozy, Ying Hu, Hernan Gonorazky, Kristl Claeys, Himanshu Joshi, Adam Bournazos, Emily C. Oates, Roula Ghaoui, Mark Davis, Nigel Laing, Ana Topf, GTEx Consortium, Peter B Kang, Alan H Beggs, Kathryn N North, Volker Straub, James Dowling, Francesco Muntoni, Nigel F Clarke, Sandra T Cooper, Carsten G Bonnemann, Daniel G MacArthur
doi: https://doi.org/10.1101/074153
Beryl B Cummings
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114 USA.
2Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142 USA.
3Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA 02115, USA.
Jamie L Marshall
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114 USA.
2Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142 USA.
Taru Tukiainen
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114 USA.
2Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142 USA.
Monkol Lek
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114 USA.
2Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142 USA.
4School of Paediatrics and Child Health, University of Sydney, Sydney NSW 2006, Australia.
5Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children’s Hospital at Westmead, Sydney NSW 2145, Australia.
Sandra Donkervoort
6Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, MD 20892, USA
A. Reghan Foley
6Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, MD 20892, USA
Veronique Bolduc
6Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, MD 20892, USA
Leigh Waddell
4School of Paediatrics and Child Health, University of Sydney, Sydney NSW 2006, Australia.
5Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children’s Hospital at Westmead, Sydney NSW 2145, Australia.
Sarah Sandaradura
4School of Paediatrics and Child Health, University of Sydney, Sydney NSW 2006, Australia.
5Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children’s Hospital at Westmead, Sydney NSW 2145, Australia.
Gina O’Grady
4School of Paediatrics and Child Health, University of Sydney, Sydney NSW 2006, Australia.
5Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children’s Hospital at Westmead, Sydney NSW 2145, Australia.
Elicia Estrella
7Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA.
Hemakumar M Reddy
8Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL 32610, USA.
Fengmei Zhao
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114 USA.
2Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142 USA.
Ben Weisburd
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114 USA.
2Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142 USA.
Konrad J Karczewski
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114 USA.
2Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142 USA.
Anne H O’Donnell-Luria
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114 USA.
2Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142 USA.
Daniel Birnbaum
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114 USA.
2Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142 USA.
Anna Sarkozy
9Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London WC1N 1EH, UK.
Ying Hu
6Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, MD 20892, USA
Hernan Gonorazky
10Division of Neurology, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.
Kristl Claeys
11Department of Neurology, University Hospitals Leuven and University of Leuven (KU Leuven), Leuven 3000, Belgium.
Himanshu Joshi
4School of Paediatrics and Child Health, University of Sydney, Sydney NSW 2006, Australia.
5Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children’s Hospital at Westmead, Sydney NSW 2145, Australia.
Adam Bournazos
4School of Paediatrics and Child Health, University of Sydney, Sydney NSW 2006, Australia.
5Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children’s Hospital at Westmead, Sydney NSW 2145, Australia.
Emily C. Oates
4School of Paediatrics and Child Health, University of Sydney, Sydney NSW 2006, Australia.
5Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children’s Hospital at Westmead, Sydney NSW 2145, Australia.
Roula Ghaoui
4School of Paediatrics and Child Health, University of Sydney, Sydney NSW 2006, Australia.
5Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children’s Hospital at Westmead, Sydney NSW 2145, Australia.
Mark Davis
12Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth WA 6009, Australia.
Nigel Laing
12Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth WA 6009, Australia.
13Harry Perkins Institute of Medical Research, University of Western Australia, Perth WA 6009, Australia.
Ana Topf
14The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NEBZ, United Kingdom.
Peter B Kang
7Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA.
8Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL 32610, USA.
Alan H Beggs
7Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA.
Kathryn N North
15Murdoch Children’s Research Institute, The Royal Children’s Hospital, Parkville VIC 3052, Australia
Volker Straub
13Harry Perkins Institute of Medical Research, University of Western Australia, Perth WA 6009, Australia.
James Dowling
9Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London WC1N 1EH, UK.
Francesco Muntoni
8Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL 32610, USA.
Nigel F Clarke
4School of Paediatrics and Child Health, University of Sydney, Sydney NSW 2006, Australia.
5Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children’s Hospital at Westmead, Sydney NSW 2145, Australia.
Sandra T Cooper
4School of Paediatrics and Child Health, University of Sydney, Sydney NSW 2006, Australia.
5Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children’s Hospital at Westmead, Sydney NSW 2145, Australia.
Carsten G Bonnemann
6Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, MD 20892, USA
Daniel G MacArthur
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114 USA.
2Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142 USA.
Article usage
Posted March 31, 2017.
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Beryl B Cummings, Jamie L Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A. Reghan Foley, Veronique Bolduc, Leigh Waddell, Sarah Sandaradura, Gina O’Grady, Elicia Estrella, Hemakumar M Reddy, Fengmei Zhao, Ben Weisburd, Konrad J Karczewski, Anne H O’Donnell-Luria, Daniel Birnbaum, Anna Sarkozy, Ying Hu, Hernan Gonorazky, Kristl Claeys, Himanshu Joshi, Adam Bournazos, Emily C. Oates, Roula Ghaoui, Mark Davis, Nigel Laing, Ana Topf, GTEx Consortium, Peter B Kang, Alan H Beggs, Kathryn N North, Volker Straub, James Dowling, Francesco Muntoni, Nigel F Clarke, Sandra T Cooper, Carsten G Bonnemann, Daniel G MacArthur
bioRxiv 074153; doi: https://doi.org/10.1101/074153
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Beryl B Cummings, Jamie L Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A. Reghan Foley, Veronique Bolduc, Leigh Waddell, Sarah Sandaradura, Gina O’Grady, Elicia Estrella, Hemakumar M Reddy, Fengmei Zhao, Ben Weisburd, Konrad J Karczewski, Anne H O’Donnell-Luria, Daniel Birnbaum, Anna Sarkozy, Ying Hu, Hernan Gonorazky, Kristl Claeys, Himanshu Joshi, Adam Bournazos, Emily C. Oates, Roula Ghaoui, Mark Davis, Nigel Laing, Ana Topf, GTEx Consortium, Peter B Kang, Alan H Beggs, Kathryn N North, Volker Straub, James Dowling, Francesco Muntoni, Nigel F Clarke, Sandra T Cooper, Carsten G Bonnemann, Daniel G MacArthur
bioRxiv 074153; doi: https://doi.org/10.1101/074153
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