New Results
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Beryl B Cummings, Jamie L Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, Reghan A. Foley, Veronique Bolduc, Leigh Waddell, Sarah Sandaradura, Gina O'Grady, Elicia Estrella, Hemakumar M Reddy, Fengmei Zhao, Ben Weisburd, Konrad J Karczewski, Anne O’Donnell-Luria, Daniel Birnbaum, Anna Sarkozy, Ying Hu, Hernan Gonorazky, Kristl Claeys, Himanshu Joshi, Adam Bournazos, Emily Oates, Roula Ghaoui, Mark Davis, Nigel Laing, Ana Topf, GTEx Consortium, Peter Kang, Alan 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.
2Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
3Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts, USA
Jamie L Marshall
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA.
2Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Taru Tukiainen
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA.
2Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Monkol Lek
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA.
2Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
4School of Paediatrics and Child Health, University of Sydney, Sydney, Australia
5Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children's Hospital at Westmead, Sydney, Australia.
Sandra Donkervoort
6Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, Maryland, USA
Reghan A. Foley
6Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, Maryland, USA
Veronique Bolduc
6Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, Maryland, USA
Leigh Waddell
4School of Paediatrics and Child Health, University of Sydney, Sydney, Australia
5Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children's Hospital at Westmead, Sydney, Australia.
Sarah Sandaradura
4School of Paediatrics and Child Health, University of Sydney, Sydney, Australia
5Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children's Hospital at Westmead, Sydney, Australia.
Gina O'Grady
4School of Paediatrics and Child Health, University of Sydney, Sydney, Australia
5Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children's Hospital at Westmead, Sydney, Australia.
Elicia Estrella
7Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA
Hemakumar M Reddy
7Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA
Fengmei Zhao
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA.
2Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Ben Weisburd
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA.
2Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Konrad J Karczewski
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA.
2Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Anne O’Donnell-Luria
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA.
2Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Daniel Birnbaum
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA.
2Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Anna Sarkozy
8Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, UK
Ying Hu
6Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, Maryland, USA
Hernan Gonorazky
9Division of Neurology, Hospital for Sick Children, Toronto, Ontario, Canada
Kristl Claeys
10Department of Neurology, University Hospitals Leuven and University of Leuven (KU Leuven), Leuven, Belgium
Himanshu Joshi
4School of Paediatrics and Child Health, University of Sydney, Sydney, Australia
5Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children's Hospital at Westmead, Sydney, Australia.
Adam Bournazos
4School of Paediatrics and Child Health, University of Sydney, Sydney, Australia
5Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children's Hospital at Westmead, Sydney, Australia.
Emily Oates
4School of Paediatrics and Child Health, University of Sydney, Sydney, Australia
5Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children's Hospital at Westmead, Sydney, Australia.
Roula Ghaoui
4School of Paediatrics and Child Health, University of Sydney, Sydney, Australia
5Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children's Hospital at Westmead, Sydney, Australia.
Mark Davis
11Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Australia
Nigel Laing
11Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Australia
12Harry Perkins Institute of Medical Research, University of Western Australia, Perth, Australia
Ana Topf
13The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
Peter Kang
7Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA
Alan Beggs
14Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA
Kathryn N North
15Murdoch Children’s Research Institute, The Royal Children’s Hospital, Parkville, Australia
Volker Straub
13The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
James Dowling
9Division of Neurology, Hospital for Sick Children, Toronto, Ontario, Canada
Francesco Muntoni
8Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, UK
Nigel F Clarke
4School of Paediatrics and Child Health, University of Sydney, Sydney, Australia
5Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children's Hospital at Westmead, Sydney, Australia.
Sandra T Cooper
4School of Paediatrics and Child Health, University of Sydney, Sydney, Australia
5Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children's Hospital at Westmead, Sydney, 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, Maryland, USA
Daniel G MacArthur
1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA.
2Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Article usage
Posted September 09, 2016.
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Beryl B Cummings, Jamie L Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, Reghan A. Foley, Veronique Bolduc, Leigh Waddell, Sarah Sandaradura, Gina O'Grady, Elicia Estrella, Hemakumar M Reddy, Fengmei Zhao, Ben Weisburd, Konrad J Karczewski, Anne O’Donnell-Luria, Daniel Birnbaum, Anna Sarkozy, Ying Hu, Hernan Gonorazky, Kristl Claeys, Himanshu Joshi, Adam Bournazos, Emily Oates, Roula Ghaoui, Mark Davis, Nigel Laing, Ana Topf, GTEx Consortium, Peter Kang, Alan 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, Reghan A. Foley, Veronique Bolduc, Leigh Waddell, Sarah Sandaradura, Gina O'Grady, Elicia Estrella, Hemakumar M Reddy, Fengmei Zhao, Ben Weisburd, Konrad J Karczewski, Anne O’Donnell-Luria, Daniel Birnbaum, Anna Sarkozy, Ying Hu, Hernan Gonorazky, Kristl Claeys, Himanshu Joshi, Adam Bournazos, Emily Oates, Roula Ghaoui, Mark Davis, Nigel Laing, Ana Topf, GTEx Consortium, Peter Kang, Alan 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
Subject Area
Subject Areas
- Biochemistry (11744)
- Bioengineering (8751)
- Bioinformatics (29193)
- Biophysics (14968)
- Cancer Biology (12094)
- Cell Biology (17411)
- Clinical Trials (138)
- Developmental Biology (9421)
- Ecology (14178)
- Epidemiology (2067)
- Evolutionary Biology (18303)
- Genetics (12244)
- Genomics (16801)
- Immunology (11866)
- Microbiology (28082)
- Molecular Biology (11592)
- Neuroscience (60959)
- Paleontology (451)
- Pathology (1870)
- Pharmacology and Toxicology (3238)
- Physiology (4957)
- Plant Biology (10427)
- Synthetic Biology (2885)
- Systems Biology (7339)
- Zoology (1651)