作者：
Laure,Frésard [1]
;
Craig,Smail [2]
;
Nicole M,Ferraro [2]
;
Nicole A,Teran [3]
;
Xin,Li [4]
;
Kevin S,Smith [4]
;
Devon,Bonner [5]
;
Kristin D,Kernohan [6]
;
Shruti,Marwaha [5]
;
Zachary,Zappala [7]
;
Brunilda,Balliu [3]
;
Joe R,Davis [4]
;
Boxiang,Liu [3]
;
Cameron J,Prybol [8]
;
Jennefer N,Kohler [3]
;
Diane B,Zastrow [5]
;
Chloe M,Reuter [5]
;
Dianna G,Fisk [5]
;
Megan E,Grove [9]
;
Jean M,Davidson [9]
;
Taila,Hartley [5]
;
Ruchi,Joshi [10]
;
Benjamin J,Strober [9]
;
Sowmithri,Utiramerur [11]
;
Undiagnosed Diseases Network [9]
;
Care4Rare Canada Consortium [12]
;
Lars,Lind [7]
;
Erik,Ingelsson [13]
;
Alexis,Battle [11]
;
Gill,Bejerano [14]
;
Jonathan A,Bernstein [15]
;
Euan A,Ashley [16]
;
Kym M,Boycott [17]
;
Jason D,Merker [18]
;
Matthew T,Wheeler [16]
;
Stephen B,Montgomery [3]
作者单位：
Department of Pathology, School of Medicine, Stanford University, Stanford, CA, USA. lfresard@stanford.edu.
[1]
Biomedical Informatics Program, Stanford University, Stanford, CA, USA.
[2]
Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA.
[3]
Department of Pathology, School of Medicine, Stanford University, Stanford, CA, USA.
[4]
Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.
[5]
Newborn Screening Ontario (NSO), Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
[6]
Stanford Cardiovascular Institute, School of Medicine, Stanford University, Stanford, CA, USA.
[7]
Department of Biology, School of Humanities and Sciences, Stanford University, Stanford, CA, USA.
[8]
Stanford Medicine Clinical Genomics Program, School of Medicine, Stanford University, Stanford, CA, USA.
[9]
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
[10]
Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
[11]
Department of Medical Sciences, Cardiovascular Epidemiology, Uppsala University, Uppsala, Sweden.
[12]
Department of Medicine, Division of Cardiovascular Medicine, School of Medicine, Stanford University, Stanford, CA, USA.
[13]
Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
[14]
Department of Computer Science, Stanford University, Stanford, CA, USA.
[15]
Department of Pediatrics, School of Medicine, Stanford University, Stanford, CA, USA.
[16]
Department of Developmental Biology, School of Medicine, Stanford University, Stanford, CA, USA.
[17]
Department of Biomedical Data Science, School of Medicine, Stanford University, Stanford, CA, USA.
[18]
Departments of Pathology and Laboratory Medicine & Genetics, Lineberger Comprehensive Cancer Center, University of North Carolina School Medicine, Chapel Hill, NC, USA.
[19]
Department of Pathology, School of Medicine, Stanford University, Stanford, CA, USA. smontgom@stanford.edu.
[20]
Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA. smontgom@stanford.edu.
[21]
DOI
10.1038/s41591-019-0457-8
PMID
31160820
发布时间
2024-02-22
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