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- January 1, 2019.
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Author Information
- The NIHR BioResource, on behalf of the 100,000 Genomes Project
- 1Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK
- 2NIHR BioResource, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge, UK
- 3Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK
- 4NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK
- 5British Heart Foundation Cambridge Centre of Excellence, University of Cambridge, Cambridge, UK
- 6MRC Biostatistics Unit, Cambridge Institute of Public Health, University of Cambridge, Cambridge, UK
- 7MRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Wort’s Causeway, Cambridge, UK
- 8Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KULeuven, Leuven, Belgium
- 9Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK
- 10MRC Clinical Sciences Centre, Faculty of Medicine, Imperial College London, London, UK
- 11Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK
- 12The Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, UK
- 13Genomics England, Charterhouse Square, London, UK
- 14William Harvey Research Institute, NIHR Biomedical Research Centre at Barts, Queen Mary University of London, London, UK
- 15Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK
- 16Medical Research Council Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, UK
- 17Women and Children’s Health, School of Life Course Sciences, King’s College London, London, UK
- 18UCL Centre for Nephrology, University College London, London, UK
- 19King’s College London, London, UK
- 20Department of Paediatric Nephrology, Evelina London Children’s Hospital, Guy’s & St Thomas’ NHS Foundation Trust, London, UK
- 21Department of Pediatric Hematology, Immunology, Rheumatology and Infectious Diseases, Emma Children’s Hospital, Academic Medical Center (AMC), University of Amsterdam, Amsterdam, The Netherlands
- 22Department of Blood Cell Research, Sanquin, Amsterdam, The Netherlands
- 23Department of Haematology, Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK
- 24Centre for Haematology, Imperial College London, London, UK
- 25NIHR Cambridge Biomedical Research Centre, Cambridge Biomedical Campus, Cambridge, UK
- 26Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK
- 27Department of Medicine, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK
- 28MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
- 29Department of Paediatrics, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK
- 30NIHR Oxford Biomedical Research Centre, Oxford University Hospitals Trust, Oxford, UK
- 31UCL Great Ormond Street Institute of Child Health, London, UK
- 32Department of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK
- 33Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK
- 34Oxford University Hospitals NHS Foundation Trust, Oxford, UK
- 35Institute of Reproductive and Developmental Biology, Surgery and Cancer, Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK
- 36Addenbrookes Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
- 37Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK
- 38Congenica, Biodata Innovation Centre, Wellcome Genome Campus, Hinxton, Cambridge, UK
- 39European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, Cambridge, UK
- 40GENALICE BV, Harderwijk, The Netherlands
- 41High Performance Computing Service, University of Cambridge, Cambridge, UK
- 42Illumina Cambridge Limited, Chesterford Research Park, Little Chesterford, Saffron Walden, Essex, UK
- 43Bristol Renal and Children’s Renal Unit, Bristol Medical School, University of Bristol, Bristol, UK
- 44Department of Paediatrics, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK
- 45Department of Haematology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK
- 46Centre for Haematology, Department of Medicine, Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK
- 47Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
- 48Cancer Research UK Cambridge Centre, Cambridge Biomedical Campus, Cambridge, UK
- 49East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
- 50Moorfields Eye Hospital NHS Foundation Trust, London, UK
- 51UCL Institute of Ophthalmology, University College London, London, UK
- 52Institute of Immunity and Transplantation, University College London, London, UK
- 53Department of Immunology, Royal Free London NHS Foundation Trust, London, UK
- 54The Katharine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, London, UK
- 55University College London, London, UK
- 56Department of Clinical Genetics, Addenbrookes Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
- 57School of Cellular and Molecular Medicine, University of Bristol, Bristol, UK
- 58University Hospitals Bristol NHS Foundation Trust, Bristol, UK
- 59Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, UK
- 60The Department of Clinical Immunology and Allergy and The NIHR Leeds Biomedical Research Centre, Leeds, UK
- 61Leeds Institute of Rheumatic and Musculoskeletal Medicine, St James’s University Hospital, Leeds, UK
- 62MRC Toxicology Unit, School of Biological Sciences, University of Cambridge, Cambridge, UK
- 63Department of Medical Genetics and NIHR Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, UK
- 64Division of Medical Genetics, IWK Health Centre, Dalhousie University, Halifax, Canada
- 65JDRF/Wellcome Diabetes and Inflammation Laboratory, Wellcome Centre for Human Genetics, Nuffield Department of Medicine, NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK
- 66Department of Medicine, Imperial College London, London, UK
- 67Department of Paediatric Haematology, University Hospital Southampton NHS Foundation Trust, Southampton, UK
- 68The Royal London Hospital, Barts Health NHS Foundation Trust, London, UK
- 69Department of Haematology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
- 70Queen Mary University of London, London, UK
- 71MRC Social, Genetic & Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, King’s College London, London, UK
- 72NIHR Biomedical Research Centre for Mental Health, Maudsley Hospital, London, UK
- 73Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore
- 74Department of Epidemiology and Biostatistics, Imperial College London, London, UK
- 75Department of Cardiology, Ealing Hospital, Middlesex, UK
- 76Imperial College Healthcare NHS Trust, London, UK
- 77MRC-PHE Centre for Environment and Health, Imperial College London, London, UK
- 78Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, UK
- 79Department of Cardiovascular Sciences and NIHR Leicester Biomedical Research Research Centre, University of Leicester, Leicester, UK
- 80Genetics and Molecular Medicine, King’s College London, London, UK
- 81Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
- 82UCL Genetics Institute, London, UK
- 83Department of Renal Medicine, Addenbrookes Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
- 84Queens Centre for Haematology and Oncology, Castle Hill Hospital, Hull and East Yorkshire NHS Trust, Cottingham, UK
- 85Hull York Medical School, University of Hull, Hull, UK
- 86Center for Clinical Transfusion Medicine, University Hospital of Tubingen, Tubingen, Germany
- 87Haematology Department, Royal Victoria Infirmary, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
- 88Southampton General Hospital, University Hospital Southampton NHS Foundation Trust, Southampton, UK
- 89Institute of Infection and Immunity, School of Medicine Cardiff University, Cardiff, UK
- 90Oxford Haemophilia and Thrombosis Centre, Oxford University Hospitals NHS Trust, Oxford Comprehensive Biomedical Research Centre, Oxford, UK
- 91The Roald Dahl Haemostasis and Thrombosis Centre, The Royal Liverpool University Hospital, Liverpool, UK
- 92Medical School and School of Biomedical Sciences, Faculty of Health and Medical Sciences, The University of Western Australia, Crawley, Australia
- 93Haemophilia Centre, Kent & Canterbury Hospital, East Kent Hospitals University Foundation Trust, Canterbury, UK
- 94Salisbury District Hospital, Salisbury NHS Foundation Trust, Salisbury, UK
- 95Haemophilia, Haemostasis and Thrombosis Centre, Hampshire Hospitals NHS Foundation Trust, Basingstoke, UK
- 96INSERM UMR 1170, Gustave Roussy Cancer Campus, Universite Paris-Saclay, Villejuif, France
- 97Service d’Hematologie biologique, Centre de Reference des Pathologies Plaquettaires, Hopital Armand Trousseau, Assistance Publique-Hopitaux de Paris, Paris, France
- 98Institute for Immunology and Transfusion Medicine, University Medicine Greifswald, Greifswald, Germany
- 99Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy
- 100Division of Hematology, The Children’s Hospital of Philadelphia, Philadelphia, USA
- 101Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA
- 102Department of Haematology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
- 103Institut Hospitalo-Universitaire de Rythmologie et de Modelisation Cardiaque, Plateforme Technologique d’Innovation Biomedicale, Hopital Xavier Arnozan, Pessac, France
- 104The Arthur Bloom Haemophilia Centre, University Hospital of Wales, Cardiff, UK
- 105Beth Israel Deaconess Medical Centre and Harvard Medical School, Boston, USA
- 106University College London Hospitals NHS Foundation Trust, London, UK
- 107Oxford Haemophilia and Thrombosis Centre, The Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, UK
- 108Glasgow Royal Infirmary, NHS Greater Glasgow and Clyde, Glasgow, UK
- 109Department of Clinical Genetics, Leicester Royal Infirmary, University Hospitals of Leicester, Leicester, UK
- 110University of Leicester, Leicester, UK
- 111Department of Neurology, Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK
- 112Institute of Neuroscience and Psychology, University of Glasgow, Glasgow, UK
- 113Department of Neurology, Leeds Teaching Hospital NHS Trust, Leeds, UK
- 114North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
- 115Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
- 116Newcastle University, Newcastle upon Tyne, UK
- 117Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
- 118National Heart and Lung Institute, Imperial College London, London, UK
- 119Royal Brompton Hospital, Royal Brompton and Harefield NHS Foundation Trust, London, UK
- 120Clinical Genetics Department, Guy’s and St Thomas NHS Foundation Trust, London, UK
- 121King’s College Hospital NHS Foundation Trust, London, UK
- 122Guy’s and St Thomas’ Hospital, Guy’s and St Thomas’ NHS Foundation Trust, London, UK
- 123MRC London Institute of Medical Sciences, Imperial College London, London, UK
- 124National Heart Research Institute Singapore, National Heart Centre Singapore, Singapore, Singapore
- 125Division of Cardiovascular & Metabolic Disorders, Duke-National University of Singapore, Singapore, Singapore
- 126Department of Biotechnology, Graduate School of Engineering, Osaka University, Suita, Osaka, Japan
- 127Women’s Health Research Centre, Surgery and Cancer, Faculty of Medicine, Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK
- 128Ramon Sarda Mother’s and Children’s Hospital, Buenos Aires, Argentina
- 129Robinson Research Institute, Discipline of Obstetrics and Gynaecology, The University of Adelaide, Women’s and Children’s Hospital, Adelaide, Australia
- 130Department of Molecular and Clinical Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
- 131Ophthalmology Department, UCSF School of Medicine, San Francisco, USA
- 132Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
- 133Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
- 134Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
- 135John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
- 136NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, UK
- 137Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK
- 138Department of Clinical Genetics, Royal Devon & Exeter Hospital, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK
- 139West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
- 140Manchester University NHS Foundation Trust, Manchester, UK
- 141Department of Clinical Genetics, Liverpool Women’s NHS Foundation, Liverpool, UK
- 142Department of Clinical Genetics, St George’s University Hospitals NHS Foundation Trust, London, UK
- 143Department of Clinical Genetics, Guy’s and St Thomas’ NHS Foundation Trust, London, UK
- 144Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester Universities Foundation NHS Trust, Manchester, UK
- 145Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK
- 146Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK
- 147Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK
- 148Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
- 149Salford Royal NHS Foundation Trust, Salford, UK
- 150Faculty of Medical and Human Sciences, Centre for Endocrinology and Diabetes, Institute of Human Development, University of Manchester, Manchester, UK
- 151Department of Clinical Neurophysiology, Manchester Royal Infirmary, Central Manchester University Hospitals National Health Service Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK
- 152National Institute for Health Research/Wellcome Trust Clinical Research Facility, Manchester, UK
- 153The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK
- 154MRC Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
- 155Pain Research, Department of Surgery and Cancer, Faculty of Medicine, Imperial College London, London, UK
- 156Pain Medicine, Chelsea and Westminster Hospital NHS Foundation Trust, London, UK
- 157University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
- 158Division of Clinical Biochemistry and Immunology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
- 159Royal Papworth Hospital NHS Foundation Trust, Cambridge, UK
- 160Department of Immunology, Leicester Royal Infirmary, Leicester, UK
- 161Royal Free London NHS Foundation Trust, London, UK
- 162Nottingham University Hospitals NHS Trust, Nottingham, UK
- 163Regional Immunology Service, The Royal Hospitals, Belfast, UK
- 164Queen’s University Belfast, Belfast, UK
- 165Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK
- 166University Hospitals of North Midlands NHS Trust, Stoke-on-Trent, UK
- 167East Yorkshire Regional Adult Immunology and Allergy Unit, Hull Royal Infirmary, Hull and East Yorkshire Hospitals NHS Trust, Hull, UK
- 168Barts Health NHS Foundation Trust, London, UK
- 169Birmingham Heartlands Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
- 170Royal Hospital for Children, NHS Greater Glasgow and Clyde, Glasgow, UK
- 171Epsom & St Helier University Hospitals NHS Trust, London, UK
- 172Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, IUK
- 173Centre for Immunology & Vaccinology, Chelsea & Westminster Hospital, Department of Medicine, Imperial College London, London, UK
- 174Department of Respiratory Medicine Royal Brompton & Harefield NHS Foundation Trust, London, UK
- 175Department of Clinical Immunology, Addenbrookes Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
- 176Sandwell and West Birmingham Hospitals NHS Trust, Birmingham, UK
- 177Scunthorpe General Hospital, Northern Lincolnshire and Goole NHS Foundation Trust, Scunthorpe, UK
- 178Gartnavel General Hospital, NHS Greater Glasgow and Clyde, Glasgow, UK
- 179Queen Elizabeth University Hospital, Glasgow, UK
- 180Birmingham Chest Clinic and Heartlands Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
- 181Frimley Park Hospital, NHS Frimley Health Foundation Trust, Camberley, UK
- 182Institute of Cellular Medicine, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
- 183Imperial College Renal and Transplant Centre, Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK
- 184Children’s Renal and Urology Unit, Nottingham Children’s Hospital, QMC, Nottingham University Hospitals NHS Trust, Nottingham, UK
- 185The National Renal Complement Therapeutics Centre, Royal Victoria Infirmary, Newcastle upon Tyne, UK
- 186MPGN/C3 Glomerulopathy Rare Renal Disease group, UK
- 187Department of Paediatric Nephrology, Great North Children’s Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
- 188Department of Pulmonary Medicine, VU University Medical Centre, Amsterdam, The Netherlands
- 189Golden Jubilee National Hospital, Glasgow, UK
- 190Sheffield Pulmonary Vascular Disease Unit, Royal Hallamshire Hospital NHS Foundation Trust, Sheffield, UK
- 191National Pulmonary Hypertension Service (Newcastle), The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
- 192Department of Molecular Medicine, General Biology, and Medical Genetics Unit, University of Pavia, Pavia, Italy
- 193Departement de Genetique & ICAN, Hopital Pitie-Salpetriere, Assistance Publique Hopitaux de Paris, Paris, France
- 194University of Giessen and Marburg Lung Center (UGMLC), Giessen, Germany
- 195Division of Cardiology, Fondazione IRCCS Policlinico S. Matteo, Pavia, Italy
- 196Univ. Paris-Sud, Faculty of Medicine, University Paris-Saclay, Le Kremlin Bicetre, France
- 197Service de Pneumologie, Centre de Reference de l’Hypertension Pulmonaire, Hopital Bicetre (Assistance Publique Hopitaux de Paris), Le Kremlin Bicetre, France
- 198INSERM U 999, Hospital Marie Lannelongue, Le Plessis Robinson, France
- 199National Pulmonary Hypertension Service, Imperial College Healthcare NHS Trust, London, UK
- 200Ludwig Boltzmann Institute for Lung Vascular Research, Graz, Austria
- 201Dept of Internal Medicine, Division of Pulmonology, Medical University of Graz, Graz, Austria
- 202Department of Infection, Immunity & Cardiovascular Disease, University of Sheffield, Sheffield, UK
- 203Royal United Hospitals Bath NHS Foundation Trust, Bath, UK
- 204Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands
- 205Imperial College London, London, UK
- 206North Bristol NHS Trust, Bristol, UK
- 207Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK
- 208Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, UK
- 209London Centre for Paediatric Endocrinology and Diabetes, Great Ormond Street Hospital for Children, London, UK
- 210NIHR Great Ormond Street Biomedical Research Centre, London, UK
- 211Arthritis Research UK Centre for Adolescent Rheumatology at UCL UCLH and GOSH, London, UK
- 212Florence Nightingale Faculty of Nursing, Midwifery & Palliative Care, King’s College London, London, UK
- 213St Johns Institute of Dermatology, St Thomas’ Hospital, Guy’s and St Thomas’ NHS Foundation Trust, London, UK
- 214Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
- 215MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
- 216Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, UK
- 217Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham, Birmingham, UK
- 218Department of Clinical Immunology, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
- 219Department of Haematology, Oxford University Hospital Foundation Trust, Oxford, UK
- 220Oxford Epilepsy Research Group, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK
- 221Nuffield Department of Surgery, University of Oxford, Oxford, UK
- 222Newcastle Eye Centre, Royal Victoria Infirmary, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
- 223NIHR Centre for Aging, Newcastle University, Newcastle upon Tyne, UK
- 224Newcastle BRC, Newcastle University, Newcastle upon Tyne, UK
- 225UCL Institute of Cardiovascular Science, University College London, London, UK
- 226Barts Heart Centre, St Bartholomew’s Hospital, Barts Health NHS Trust, London, UK