[1
]Geisinger Health System, Danville, PA, USA
[2
]Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge,
MA, USA
[3
]Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist
Hospital and Research Center, Riyadh, 11211, Saudi Arabia
[4
]Department of Genetic Medicine, Online Mendelian Inheritance in Man (OMIM), Johns
Hopkins University School of Medicine, Baltimore, MD, 21287-4922, USA
[5
]Inserm, US14 - Orphanet, France
[6
]Department of Pathology, Massachusetts General Hospital, Boston, MA, USA
[7
]MGB Laboratory for Molecular Medicine, Cambridge, MA, USA
[8
]Myriad Women's Health, San Francisco, CA, USA
[9
]Department of Genetics, University of North Carolina, Chapel Hill, NC, USA
[10
]European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome
Genome Campus, Hinxton, CB10 1SD, UK
[11
]HUGO Gene Nomenclature Committee (HGNC), European Molecular Biology Laboratory, European
Bioinformatics Institute, Wellcome Genome Campus, Hinxton, CB10 1SD, UK
[12
]Department of Haematology, University of Cambridge School of Clinical Medicine, Cambridge,
CB2 0PT, UK
[13
]Illumina Clinical Services Laboratory, Illumina Inc., 5200 Illumina Way, San Diego,
CA, 92122, USA
[14
]National Library of Medicine, Bethesda, MD, USA
[15
]ICF, 9300 Lee Highway, Fairfax, VA, 22031, USA
[16
]Genome Interpretation, Genome Assembly and Annotation (GAA), European Molecular Biology
Laboratory, European Bioinformatics Institute,, Wellcome Genome Campus, Hinxton,,
Cambridge, CB10 1SD, UK
[17
]Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square,
London, EC1M 6BQ, UK
[18
]Healx Ltd., Charter House, 66-68 Hills Rd, Cambridge, CB2 1LA, UK
[19
]Franklin by Genoox, Palo Alto, CA, USA
[20
]Department of Genetics, Addenbrooke's Hospital, Cambridge, UK
[21
]MRC Human Genetics Unit, MRC IGMM, The University of Edinburgh, Edinburgh, UK
[22
]SciBite Limited, BioData Innovation Centre, Wellcome Genome Campus, Hinxton, CB10
1DR, UK
[23
]Wellcome Sanger Institute, Hinxton, UK
[24
]Open Targets, EMBL-EBI, Wellcome Genome Campus, Hinxton, CB10 1DR, UK
[25
]AmbryGenetics, Aliso Viejo, CA, USA
[26
]National Human Genome Research Institute, National Institutes of Health, USA
[27
]Autism & Developmental Medicine Institute, Geisinger Health System, Danville, PA,
USA
[28
]National Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial
College London, London, UK
[29
]Great Ormond Street Hospital, London, UK
[30
]Australian Genomics, Melbourne, Australia
[31
]Invitae, San Francisco, CA, USA
[32
]Royal Brompton & Harefield Hospitals, Guy’s and St. Thomas’ NHS Foundation Trust,
London, UK
[33
]Institute of Biomedical and Clinical Science, University of Exeter Medical School,
Royal Devon & Exeter Hospital, Exeter, EX2 5DW, UK
[34
]Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA
License:
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CC BY 4.0 International license.
