Author information:
(1)From Genomics England (D.S., K.R.S., A.M., E.A.T., E.M.M., A.T., G.C., K.I., 
L.M., M. Wielscher, A.N., M. Bale, E.B., C.B., H.B., M. Bleda, A. Devereau, 
D.H., E. Haraldsdottir, Z.H., D.K., C. Patch, D.P., A.M., R. Sultana, M.R., 
A.L.T.T., C. Tregidgo, C. Turnbull, M. Welland, S. Wood, C.S., E.W., S.L., 
R.E.F., L.C.D., O.N., I.U.S.L., C.F.W., J.C., R.H.S., T.F., A.R., M.C.), the 
William Harvey Research Institute, Queen Mary University of London (D.S., 
K.R.S., V.C., A.T., L.M., M.R.B., D.K., S. Wood, P.C., J.O.J., T.F., M.C.), 
University College London (UCL) Institute of Ophthalmology (V.C., G.A., M.M., 
A.T.M., S. Malka, N.P., P.Y.-W.-M., A.R.W.), UCL Genetics Institute (V.C., 
N.W.W.), GOSgene (H.J.W.), Genetics and Genomic Medicine Programme (L.V., M.R., 
M.D., L.C., P. Beales, M.B.-G.), National Institute for Health Research (NIHR) 
Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., S. 
Grunewald, S.C.-L., F.M., C. Pilkington, L.R.W., L.C., P. Beales, M.B.-G.), 
Infection, Immunity, and Inflammation Research and Teaching Department (P.A., 
L.R.W.), Stem Cells and Regenerative Medicine (N.T.), and Mitochondrial Research 
Group (S. Rahman), UCL Great Ormond Street Institute of Child Health, UCL Ear 
Institute (L.V.), the Department of Renal Medicine (D. Bockenhauer), and 
Institute of Cardiovascular Science (P.E.), UCL, Moorfields Eye Hospital 
National Health Service (NHS) Foundation Trust (V.C., G.A., M.M., A.T.M., S. 
Malka, N.P., A.R.W.), the National Hospital for Neurology and Neurosurgery 
(J.V., E.O., J.Y., K. Newland, H.R.M., J.P., N.W.W., H.H.), the Metabolic Unit 
(L.A., S. Grunewald, S. Rahman), London Centre for Paediatric Endocrinology and 
Diabetes (M.D.), and the Department of Gastroenterology (N.T.), Great Ormond 
Street Hospital for Children NHS Foundation Trust (L.V., D. Bockenhauer, A. 
Broomfield, M.A.C., T. Lam, E.F., V.G., S.C.-L., F.M., C. Pilkington, R. 
Quinlivan, C.W., L.R.W., A. Worth, L.C., P. Beales, M.B.-G., R.H.S.), the 
Clinical Genetics Department (M.R., T.B., C. Compton, C.D., E. Haque, L.I., 
D.J., S. Mohammed, L.R., S. Rose, D.R., G.S., A.C.S., F.F., M.I.) and St. John's 
Institute of Dermatology (H.F., R. Sarkany), Guy's and St. Thomas' NHS 
Foundation Trust, the Division of Genetics and Epidemiology, Institute of Cancer 
Research (C. Turnbull), Florence Nightingale Faculty of Nursing, Midwifery, and 
Palliative Care (T.B.), Division of Genetics and Molecular Medicine (M.A.S.), 
and Division of Medical and Molecular Genetics (M.I.), King's College London, 
NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), NHS England and NHS 
Improvement, Skipton House (V.D., A. Douglas, S. Hill), and Imperial College 
Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), London, Open Targets and 
European Molecular Biology Laboratory-European Bioinformatics Institute, 
Wellcome Genome Campus, Hinxton (E.M.M.), the Division of Evolution and Genomic 
Sciences, Faculty of Biology, Medicine, and Health, University of Manchester 
(J.M.E., S.B., J.C.-S., S.D., G.H., H.B.T., R.T.O., G. Black, W.N.), and the 
Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester 
University NHS Foundation Trust (J.M.E., Z.H., S.B., J.C.-S., S.D., G.H., G. 
Black, W.N.), Manchester, the Department of Genetic and Genomic Medicine, 
Institute of Medical Genetics, Cardiff University, Cardiff (H.J.W.), the 
Department of Clinical Neurosciences (T.R., W.W., R.H., P.F.C.), the Medical 
Research Council (MRC) Mitochondrial Biology Unit (T.R., W.W., P.Y.-W.-M., 
P.F.C.), the Department of Paediatrics (T.R.), the Department of Haematology 
(K.S., C. Penkett, S. Gräf, R.M., W.H.O., A.R.), the School of Clinical Medicine 
(K.R., E.L., R.A.F., K.P., F.L.R.), the Department of Medicine (S. Gräf), and 
Cambridge Centre for Brain Repair, Department of Clinical Neurosciences 
(P.Y.-W.-M.), University of Cambridge, NIHR BioResource, Cambridge University 
Hospitals (K.S., S.A., R.J., C. Penkett, E.D., S. Gräf, R.M., M.K., J.R.B., 
P.F.C., W.H.O., F.L.R.), and Addenbrooke's Hospital, Cambridge University 
Hospitals NHS Foundation Trust (G.F., P.T., O.S.-B., S. Halsall, K.P., A. 
Wagner, S.G.M., N.B., M.K.), Cambridge Biomedical Campus, Wellcome-MRC Institute 
of Metabolic Science and NIHR Cambridge BRC (M.G.), Congenica (A.H., H.S.), 
Illumina Cambridge (A. Wolejko, B.H., G. Burns, S. Hunter, R.J.G., S.J.H., D. 
Bentley), NHS Blood and Transplant (W.H.O.), and Wellcome Sanger Institute 
(W.H.O.), Cambridge, the Health Economics Research Centre (J. Buchanan, S. 
Wordsworth) and the Wellcome Centre for Human Genetics (C. Camps, J.C.T.), 
University of Oxford, NIHR Oxford BRC (J. Buchanan, S. Wordsworth, J.D., C. 
Crichton, J.W., K.W., C. Camps, S.P., N.B.A.R., A.S., J.T., J.C.T.), the Oxford 
Centre for Genomic Medicine (A. de Burca, A.H.N.), and the Departments of 
Haematology (N.B.A.R.) and Neurology (A.S.), Oxford University Hospitals NHS 
Foundation Trust, Oxford Genetics Laboratories, Oxford University Hospitals NHS 
Foundation Trust, Churchill Hospital (C. Campbell, K.G., T. Lester, J.T.), the 
MRC Weatherall Institute of Molecular Medicine (N.K., N.B.A.R., A.O.M.W.) and 
the Oxford Epilepsy Research Group (A.S.), Nuffield Department of Clinical 
Neurosciences (A.H.N.), University of Oxford, and the Department of Clinical 
Immunology (S.P.), John Radcliffe Hospital, Oxford, Peninsula Clinical Genetics 
Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University 
of Exeter Medical School (E.B., C.F.W.), Royal Devon and Exeter Hospital (S.E.), 
Exeter, Newcastle Eye Centre, Royal Victoria Infirmary (A.C.B.), the Institute 
of Genetic Medicine, Newcastle University, International Centre for Life (V.S., 
P. Brennan), Wellcome Centre for Mitochondrial Research, Translational and 
Clinical Research Institute, Faculty of Medical Sciences, Newcastle University 
(G.S.G., R.H., A.M.S., D.M.T., R. Quinton, R.M., R.W.T., J.A.S.), Highly 
Specialised Mitochondrial Service (G.S.G., A.M.S., D.M.T., R.M., R.W.T.) and 
Northern Genetics Service (J. Burn), Newcastle upon Tyne Hospitals NHS 
Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., D.M.T., J.A.S.), 
Newcastle upon Tyne, the Institute of Cancer and Genomic Sciences, Institute of 
Biomedical Research, University of Birmingham (C. Palles), and Birmingham 
Women's Hospital (D.M.), Birmingham, the Genomic Informatics Group (E.G.S.), 
University Hospital Southampton (I.K.T.), and the University of Southampton 
(I.K.T.), Southampton, Liverpool Women's NHS Foundation Trust, Liverpool (A. 
Douglas), the School of Cellular and Molecular Medicine, University of Bristol, 
Bristol (A.D.M.), and Yorkshire and Humber, Sheffield Children's Hospital, 
Sheffield (G.W.) - all in the United Kingdom; Fabric Genomics, Oakland (M. 
Babcock, M.G.R.), and the Ophthalmology Department, University of California, 
San Francisco School of Medicine, San Francisco (A.T.M.) - both in California; 
the Jackson Laboratory for Genomic Medicine, Farmington, CT (P.N.R.); and the 
Center for Genome Research and Biocomputing, Environmental and Molecular 
Toxicology, Oregon State University, Corvallis (M.H.).