Title: Identification of rare-disease genes in diverse undiagnosed cases using whole blood transcriptome sequencing and large control cohorts
Authors: orcid: http://orcid.org/0000-0001-8154-6328
last_name: Frésard
first_name: Laure
name: Laure Frésard
affiliations: label: 1
institution: Department of Pathology, Stanford University
country: USA
name: Department of Pathology, Stanford University , Stanford, CA, USA
orcid: http://orcid.org/0000-0001-8045-6021
last_name: Smail
first_name: Craig
name: Craig Smail
affiliations: label: 2
institution: Biomedical Informatics Program
country: USA
name: Biomedical Informatics Program , Stanford, CA, USA
last_name: Smith
first_name: Kevin S.
name: Kevin S. Smith
affiliations: label: 1
institution: Department of Pathology, Stanford University
country: USA
name: Department of Pathology, Stanford University , Stanford, CA, USA
orcid: http://orcid.org/0000-0003-4291-193X
last_name: Ferraro
first_name: Nicole M.
name: Nicole M. Ferraro
affiliations: label: 2
institution: Biomedical Informatics Program
country: USA
name: Biomedical Informatics Program , Stanford, CA, USA
orcid: http://orcid.org/0000-0002-9625-5010
last_name: Teran
first_name: Nicole A.
name: Nicole A. Teran
affiliations: label: 3
institution: Department of Genetics, School of Medicine
country: USA
name: Department of Genetics, School of Medicine , Stanford, CA, USA
last_name: Kernohan
first_name: Kristin D.
name: Kristin D. Kernohan
affiliations: label: 4
institution: Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa
country: Canada
name: Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa , Ottawa, ON, Canada
last_name: Bonner
first_name: Devon
name: Devon Bonner
affiliations: label: 5
institution: Stanford Center for Undiagnosed Diseases
country: USA
name: Stanford Center for Undiagnosed Diseases , Stanford, CA, USA
orcid: http://orcid.org/0000-0002-2122-7461
last_name: Li
first_name: Xin
name: Xin Li
affiliations: label: 1
institution: Department of Pathology, Stanford University
country: USA
name: Department of Pathology, Stanford University , Stanford, CA, USA
last_name: Marwaha
first_name: Shruti
name: Shruti Marwaha
affiliations: label: 5
institution: Stanford Center for Undiagnosed Diseases
country: USA
name: Stanford Center for Undiagnosed Diseases , Stanford, CA, USA
last_name: Zappala
first_name: Zachary
name: Zachary Zappala
affiliations: label: 3
institution: Department of Genetics, School of Medicine
country: USA
name: Department of Genetics, School of Medicine , Stanford, CA, USA
orcid: http://orcid.org/0000-0001-8953-804X
last_name: Balliu
first_name: Brunilda
name: Brunilda Balliu
affiliations: label: 1
institution: Department of Pathology, Stanford University
country: USA
name: Department of Pathology, Stanford University , Stanford, CA, USA
last_name: Davis
first_name: Joe R.
name: Joe R. Davis
affiliations: label: 3
institution: Department of Genetics, School of Medicine
country: USA
name: Department of Genetics, School of Medicine , Stanford, CA, USA
last_name: Liu
first_name: Boxiang
name: Boxiang Liu
affiliations: label: 6
institution: Department of Biology, School of Humanities and Sciences
country: USA
name: Department of Biology, School of Humanities and Sciences , Stanford, CA, USA
last_name: Prybol
first_name: Cameron J.
name: Cameron J. Prybol
affiliations: label: 3
institution: Department of Genetics, School of Medicine
country: USA
name: Department of Genetics, School of Medicine , Stanford, CA, USA
last_name: Kohler
first_name: Jennefer N.
name: Jennefer N. Kohler
affiliations: label: 5
institution: Stanford Center for Undiagnosed Diseases
country: USA
name: Stanford Center for Undiagnosed Diseases , Stanford, CA, USA
last_name: Zastrow
first_name: Diane B.
name: Diane B. Zastrow
affiliations: label: 5
institution: Stanford Center for Undiagnosed Diseases
country: USA
name: Stanford Center for Undiagnosed Diseases , Stanford, CA, USA
last_name: Fisk
first_name: Dianna G.
name: Dianna G. Fisk
affiliations: label: 7
institution: Stanford Medicine Clinical Genomics Program, Stanford
country: USA
name: Stanford Medicine Clinical Genomics Program, Stanford , CA, USA
last_name: Grove
first_name: Megan E.
name: Megan E. Grove
affiliations: label: 7
institution: Stanford Medicine Clinical Genomics Program, Stanford
country: USA
name: Stanford Medicine Clinical Genomics Program, Stanford , CA, USA
last_name: Davidson
first_name: Jean M.
name: Jean M. Davidson
affiliations: label: 5
institution: Stanford Center for Undiagnosed Diseases
country: USA
name: Stanford Center for Undiagnosed Diseases , Stanford, CA, USA
last_name: Hartley
first_name: Taila
name: Taila Hartley
affiliations: label: 4
institution: Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa
country: Canada
name: Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa , Ottawa, ON, Canada
last_name: Joshi
first_name: Ruchi
name: Ruchi Joshi
affiliations: label: 7
institution: Stanford Medicine Clinical Genomics Program, Stanford
country: USA
name: Stanford Medicine Clinical Genomics Program, Stanford , CA, USA
last_name: Strober
first_name: Benjamin J.
name: Benjamin J. Strober
affiliations: label: 8
institution: Department of Biomedical Engineering, Johns Hopkins University
country: USA
name: Department of Biomedical Engineering, Johns Hopkins University , Baltimore, MD, USA
last_name: Utiramerur
first_name: Sowmithri
name: Sowmithri Utiramerur
affiliations: label: 7
institution: Stanford Medicine Clinical Genomics Program, Stanford
country: USA
name: Stanford Medicine Clinical Genomics Program, Stanford , CA, USA
affiliations: label: 4
institution: Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa
country: Canada
name: Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa , Ottawa, ON, Canada
affiliations: label: 9
institution: NIH Undiagnosed Diseases Network, National Institutes of Health
name: NIH Undiagnosed Diseases Network, National Institutes of Health , Bethesda, MD, USA
orcid: http://orcid.org/0000-0003-2335-8542
last_name: Lind
first_name: Lars
name: Lars Lind
affiliations: label: 10
institution: Department of Medical Sciences, Cardiovascular epidemiology, Uppsala University
country: Sweden
name: 10 Department of Medical Sciences, Cardiovascular epidemiology, Uppsala University , Sweden
orcid: http://orcid.org/0000-0003-2256-6972
last_name: Ingelsson
first_name: Erik
name: Erik Ingelsson
affiliations: label: 11
institution: Department of Medicine, Division of Cardiovascular Medicine, School of Medicine
country: USA
name: 11 Department of Medicine, Division of Cardiovascular Medicine, School of Medicine , Stanford, CA, USA
label: 12
institution: Stanford Cardiovascular Institute, Stanford University
country: USA
name: 12 Stanford Cardiovascular Institute, Stanford University , Stanford, CA, USA
last_name: Battle
first_name: Alexis
name: Alexis Battle
affiliations: label: 8
institution: Department of Biomedical Engineering, Johns Hopkins University
country: USA
name: Department of Biomedical Engineering, Johns Hopkins University , Baltimore, MD, USA
label: 13
institution: Department of Computer Science, Johns Hopkins University
country: USA
name: 13 Department of Computer Science, Johns Hopkins University , Baltimore, MD, USA
last_name: Bejerano
first_name: Gill
name: Gill Bejerano
affiliations: label: 14
institution: Department of Computer Science, Stanford
country: USA
name: 14 Department of Computer Science, Stanford , CA, USA
last_name: Bernstein
first_name: Jonathan A.
name: Jonathan A. Bernstein
affiliations: label: 11
institution: Department of Medicine, Division of Cardiovascular Medicine, School of Medicine
country: USA
name: 11 Department of Medicine, Division of Cardiovascular Medicine, School of Medicine , Stanford, CA, USA
label: 15
institution: Department of Pediatrics, Stanford School of Medicine
country: USA
name: 15 Department of Pediatrics, Stanford School of Medicine , Stanford, CA, USA
last_name: Ashley
first_name: Euan A.
name: Euan A. Ashley
affiliations: label: 3
institution: Department of Genetics, School of Medicine
country: USA
name: Department of Genetics, School of Medicine , Stanford, CA, USA
label: 11
institution: Department of Medicine, Division of Cardiovascular Medicine, School of Medicine
country: USA
name: 11 Department of Medicine, Division of Cardiovascular Medicine, School of Medicine , Stanford, CA, USA
orcid: http://orcid.org/0000-0003-4186-8052
last_name: Boycott
first_name: Kym M.
name: Kym M. Boycott
affiliations: label: 4
institution: Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa
country: Canada
name: Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa , Ottawa, ON, Canada
last_name: Merker
first_name: Jason D.
name: Jason D. Merker
affiliations: label: 1
institution: Department of Pathology, Stanford University
country: USA
name: Department of Pathology, Stanford University , Stanford, CA, USA
label: 7
institution: Stanford Medicine Clinical Genomics Program, Stanford
country: USA
name: Stanford Medicine Clinical Genomics Program, Stanford , CA, USA
label: 16
institution: Departments of Pathology and Laboratory Medicine & Genetics, Lineberger Comprehensive Cancer Center, University of North Carolina School of Medicine
country: USA
name: 16 Departments of Pathology and Laboratory Medicine & Genetics, Lineberger Comprehensive Cancer Center, University of North Carolina School of Medicine , Chapel Hill, NC, USA
last_name: Wheeler
first_name: Matthew T.
name: Matthew T. Wheeler
affiliations: label: 5
institution: Stanford Center for Undiagnosed Diseases
country: USA
name: Stanford Center for Undiagnosed Diseases , Stanford, CA, USA
label: 11
institution: Department of Medicine, Division of Cardiovascular Medicine, School of Medicine
country: USA
name: 11 Department of Medicine, Division of Cardiovascular Medicine, School of Medicine , Stanford, CA, USA
orcid: http://orcid.org/0000-0002-5200-3903
last_name: Montgomery
first_name: Stephen B.
name: Stephen B. Montgomery
affiliations: label: 1
institution: Department of Pathology, Stanford University
country: USA
name: Department of Pathology, Stanford University , Stanford, CA, USA
label: 3
institution: Department of Genetics, School of Medicine
country: USA
name: Department of Genetics, School of Medicine , Stanford, CA, USA
Affiliations: label: 1
institution: Department of Pathology, Stanford University
country: USA
name: Department of Pathology, Stanford University , Stanford, CA, USA
label: 2
institution: Biomedical Informatics Program
country: USA
name: Biomedical Informatics Program , Stanford, CA, USA
label: 3
institution: Department of Genetics, School of Medicine
country: USA
name: Department of Genetics, School of Medicine , Stanford, CA, USA
label: 4
institution: Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa
country: Canada
name: Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa , Ottawa, ON, Canada
label: 5
institution: Stanford Center for Undiagnosed Diseases
country: USA
name: Stanford Center for Undiagnosed Diseases , Stanford, CA, USA
label: 6
institution: Department of Biology, School of Humanities and Sciences
country: USA
name: Department of Biology, School of Humanities and Sciences , Stanford, CA, USA
label: 7
institution: Stanford Medicine Clinical Genomics Program, Stanford
country: USA
name: Stanford Medicine Clinical Genomics Program, Stanford , CA, USA
label: 8
institution: Department of Biomedical Engineering, Johns Hopkins University
country: USA
name: Department of Biomedical Engineering, Johns Hopkins University , Baltimore, MD, USA
label: 9
institution: NIH Undiagnosed Diseases Network, National Institutes of Health
name: NIH Undiagnosed Diseases Network, National Institutes of Health , Bethesda, MD, USA
label: 10
institution: Department of Medical Sciences, Cardiovascular epidemiology, Uppsala University
country: Sweden
name: 10 Department of Medical Sciences, Cardiovascular epidemiology, Uppsala University , Sweden
label: 11
institution: Department of Medicine, Division of Cardiovascular Medicine, School of Medicine
country: USA
name: 11 Department of Medicine, Division of Cardiovascular Medicine, School of Medicine , Stanford, CA, USA
label: 12
institution: Stanford Cardiovascular Institute, Stanford University
country: USA
name: 12 Stanford Cardiovascular Institute, Stanford University , Stanford, CA, USA
label: 13
institution: Department of Computer Science, Johns Hopkins University
country: USA
name: 13 Department of Computer Science, Johns Hopkins University , Baltimore, MD, USA
label: 14
institution: Department of Computer Science, Stanford
country: USA
name: 14 Department of Computer Science, Stanford , CA, USA
label: 15
institution: Department of Pediatrics, Stanford School of Medicine
country: USA
name: 15 Department of Pediatrics, Stanford School of Medicine , Stanford, CA, USA
label: 16
institution: Departments of Pathology and Laboratory Medicine & Genetics, Lineberger Comprehensive Cancer Center, University of North Carolina School of Medicine
country: USA
name: 16 Departments of Pathology and Laboratory Medicine & Genetics, Lineberger Comprehensive Cancer Center, University of North Carolina School of Medicine , Chapel Hill, NC, USA
Field: Biochemistry, Genetics and Molecular Biology
Document type: preprint
Year: 2018