New Results
Identification of rare-disease genes in diverse undiagnosed cases using whole blood transcriptome sequencing and large control cohorts
View ORCID ProfileLaure Frésard, View ORCID ProfileCraig Smail, Kevin S. Smith, View ORCID ProfileNicole M. Ferraro, View ORCID ProfileNicole A. Teran, Kristin D. Kernohan, Devon Bonner, View ORCID ProfileXin Li, Shruti Marwaha, Zachary Zappala, View ORCID ProfileBrunilda Balliu, Joe R. Davis, Boxiang Liu, Cameron J. Prybol, Jennefer N. Kohler, Diane B. Zastrow, Dianna G. Fisk, Megan E. Grove, Jean M. Davidson, Taila Hartley, Ruchi Joshi, Benjamin J. Strober, Sowmithri Utiramerur, Care4Rare Canada Consortium, Undiagnosed Diseases Network, View ORCID ProfileLars Lind, View ORCID ProfileErik Ingelsson, Alexis Battle, Gill Bejerano, Jonathan A. Bernstein, Euan A. Ashley, View ORCID ProfileKym M. Boycott, Jason D. Merker, Matthew T. Wheeler, View ORCID ProfileStephen B. Montgomery
doi: https://doi.org/10.1101/408492
Laure Frésard
1Department of Pathology, Stanford University, Stanford, CA, USA
Craig Smail
2Biomedical Informatics Program, Stanford, CA, USA
Kevin S. Smith
1Department of Pathology, Stanford University, Stanford, CA, USA
Nicole M. Ferraro
2Biomedical Informatics Program, Stanford, CA, USA
Nicole A. Teran
3Department of Genetics, School of Medicine, Stanford, CA, USA
Kristin D. Kernohan
4Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada
Devon Bonner
5Stanford Center for Undiagnosed Diseases, Stanford, CA, USA
Xin Li
1Department of Pathology, Stanford University, Stanford, CA, USA
Shruti Marwaha
5Stanford Center for Undiagnosed Diseases, Stanford, CA, USA
Zachary Zappala
3Department of Genetics, School of Medicine, Stanford, CA, USA
Brunilda Balliu
1Department of Pathology, Stanford University, Stanford, CA, USA
Joe R. Davis
3Department of Genetics, School of Medicine, Stanford, CA, USA
Boxiang Liu
6Department of Biology, School of Humanities and Sciences, Stanford, CA, USA
Cameron J. Prybol
3Department of Genetics, School of Medicine, Stanford, CA, USA
Jennefer N. Kohler
5Stanford Center for Undiagnosed Diseases, Stanford, CA, USA
Diane B. Zastrow
5Stanford Center for Undiagnosed Diseases, Stanford, CA, USA
Dianna G. Fisk
7Stanford Medicine Clinical Genomics Program, Stanford, CA, USA
Megan E. Grove
7Stanford Medicine Clinical Genomics Program, Stanford, CA, USA
Jean M. Davidson
5Stanford Center for Undiagnosed Diseases, Stanford, CA, USA
Taila Hartley
4Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada
Ruchi Joshi
7Stanford Medicine Clinical Genomics Program, Stanford, CA, USA
Benjamin J. Strober
8Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA
Sowmithri Utiramerur
7Stanford Medicine Clinical Genomics Program, Stanford, CA, USA
4Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada
9NIH Undiagnosed Diseases Network, National Institutes of Health, Bethesda, MD, USA
Lars Lind
10Department of Medical Sciences, Cardiovascular epidemiology, Uppsala University, Sweden
Erik Ingelsson
11Department of Medicine, Division of Cardiovascular Medicine, School of Medicine, Stanford, CA, USA
12Stanford Cardiovascular Institute, Stanford University, Stanford, CA, USA
Alexis Battle
8Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA
13Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA
Gill Bejerano
14Department of Computer Science, Stanford, CA, USA
Jonathan A. Bernstein
11Department of Medicine, Division of Cardiovascular Medicine, School of Medicine, Stanford, CA, USA
15Department of Pediatrics, Stanford School of Medicine, Stanford, CA, USA
Euan A. Ashley
3Department of Genetics, School of Medicine, Stanford, CA, USA
11Department of Medicine, Division of Cardiovascular Medicine, School of Medicine, Stanford, CA, USA
Kym M. Boycott
4Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada
Jason D. Merker
1Department of Pathology, Stanford University, Stanford, CA, USA
7Stanford Medicine Clinical Genomics Program, Stanford, CA, USA
16Departments of Pathology and Laboratory Medicine & Genetics, Lineberger Comprehensive Cancer Center, University of North Carolina School of Medicine, Chapel Hill, NC, USA
Matthew T. Wheeler
5Stanford Center for Undiagnosed Diseases, Stanford, CA, USA
11Department of Medicine, Division of Cardiovascular Medicine, School of Medicine, Stanford, CA, USA
Stephen B. Montgomery
1Department of Pathology, Stanford University, Stanford, CA, USA
3Department of Genetics, School of Medicine, Stanford, CA, USA
Posted September 04, 2018.
Identification of rare-disease genes in diverse undiagnosed cases using whole blood transcriptome sequencing and large control cohorts
Laure Frésard, Craig Smail, Kevin S. Smith, Nicole M. Ferraro, Nicole A. Teran, Kristin D. Kernohan, Devon Bonner, Xin Li, Shruti Marwaha, Zachary Zappala, Brunilda Balliu, Joe R. Davis, Boxiang Liu, Cameron J. Prybol, Jennefer N. Kohler, Diane B. Zastrow, Dianna G. Fisk, Megan E. Grove, Jean M. Davidson, Taila Hartley, Ruchi Joshi, Benjamin J. Strober, Sowmithri Utiramerur, Care4Rare Canada Consortium, Undiagnosed Diseases Network, Lars Lind, Erik Ingelsson, Alexis Battle, Gill Bejerano, Jonathan A. Bernstein, Euan A. Ashley, Kym M. Boycott, Jason D. Merker, Matthew T. Wheeler, Stephen B. Montgomery
bioRxiv 408492; doi: https://doi.org/10.1101/408492
Identification of rare-disease genes in diverse undiagnosed cases using whole blood transcriptome sequencing and large control cohorts
Laure Frésard, Craig Smail, Kevin S. Smith, Nicole M. Ferraro, Nicole A. Teran, Kristin D. Kernohan, Devon Bonner, Xin Li, Shruti Marwaha, Zachary Zappala, Brunilda Balliu, Joe R. Davis, Boxiang Liu, Cameron J. Prybol, Jennefer N. Kohler, Diane B. Zastrow, Dianna G. Fisk, Megan E. Grove, Jean M. Davidson, Taila Hartley, Ruchi Joshi, Benjamin J. Strober, Sowmithri Utiramerur, Care4Rare Canada Consortium, Undiagnosed Diseases Network, Lars Lind, Erik Ingelsson, Alexis Battle, Gill Bejerano, Jonathan A. Bernstein, Euan A. Ashley, Kym M. Boycott, Jason D. Merker, Matthew T. Wheeler, Stephen B. Montgomery
bioRxiv 408492; doi: https://doi.org/10.1101/408492
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