11Department of Clinical Genetics, Guy’s and St Thomas’ NHS Foundation Trust, London, UK.10Northern Genetics Service, Newcastle Hospitals NHS Foundation Trust, International Centre for Life, Newcastle upon Tyne, UK.9Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.8NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.7Department of Clinical Genetics and Genomic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.6Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.5Department of Paediatrics, University of Cambridge, Cambridge, UK.4William Harvey Research Institute, Queen Mary University of London, London, UK.3East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.2Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.

1Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK.on behalf of the Genomics England Research Consortium.Natalie Canham, consultant clinical geneticist 18,.Charulata Deshpande, consultant clinical geneticist 11 15,.Audrey Smith, consultant clinical geneticist 15,.Dominic J McMullen, consultant clinical scientist 13,.Victoria Nesbitt, consultant paediatrician 12,.Carl Fratter, consultant clinical scientist 12,.Louise Izatt, consultant clinical geneticist 11,.

Dragana Josifova, consultant clinical geneticist 11,.

Paul Brennan, consultant clinical geneticist 10,.Emma Clement, consultant clinical geneticist 7,.Enrico Bugiardini, clinical research associate 6,.Robert D S Pitceathly, consultant neurologist 6,.Thiloka Ratnaike, clinical research fellow 1 2 5,.Kristina Ibañez, senior research associate 4,.Arianna Tucci, clinical research fellow 4,.Claudia Calabrese, research associate 1 2,.Rita Horvath, clinical director of research 1,.Katherine R Schon, clinical research fellow 1 2 3,.

Gene sequence definition