Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

• Taylor JC NIHR Comprehensive Biomedical Research Centre, Oxford, UK.
• Martin HC Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Lise S Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Broxholme J Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Cazier JB Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Rimmer A Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Kanapin A Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Lunter G Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Fiddy S Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Allan C Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Aricescu AR Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Attar M Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Babbs C MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
• Becq J Illumina Cambridge Limited, Saffron Walden, UK.
• Beeson D Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
• Bento C Hematology Department, Centro Hospitalar e Universitário de Coimbra, Portugal.
• Bignell P Molecular Haematology Department, Oxford University Hospitals NHS Trust, Oxford, UK.
• Blair E Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK.
• Buckle VJ MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
• Bull K Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Cais O Neurobiology Division, MRC Laboratory of Molecular Biology, Cambridge, UK.
• Cario H Department of Pediatrics and Adolescent Medicine, University Medical Center, Ulm, Germany.
• Chapel H Primary Immunodeficiency Unit, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
• Copley RR NIHR Comprehensive Biomedical Research Centre, Oxford, UK.
• Cornall R Centre for Cellular and Molecular Physiology, University of Oxford, Oxford, UK.
• Craft J NIHR Comprehensive Biomedical Research Centre, Oxford, UK.
• Dahan K Centre de Génétique Humaine, Institut de Génétique et de Pathologie, Gosselies, Belgium.
• Davenport EE Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Dendrou C MRC Human Immunology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
• Devuyst O Institute of Physiology, Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.
• Fenwick AL Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
• Flint J Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Fugger L MRC Human Immunology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
• Gilbert RD University Hospital Southampton NHS Foundation Trust, University of Southampton, Southampton, UK.
• Goriely A Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
• Green A Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Greger IH Neurobiology Division, MRC Laboratory of Molecular Biology, Cambridge, UK.
• Grocock R Illumina Cambridge Limited, Saffron Walden, UK.
• Gruszczyk AV Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
• Hastings R Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
• Hatton E Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Higgs D MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
• Hill A Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Holmes C Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Howard M NIHR Comprehensive Biomedical Research Centre, Oxford, UK.
• Hughes L Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Humburg P Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Johnson D Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, Oxford, UK.
• Karpe F Oxford Laboratory for Integrative Physiology, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, UK.
• Kingsbury Z Illumina Cambridge Limited, Saffron Walden, UK.
• Kini U Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK.
• Knight JC Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Krohn J Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Lamble S Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Langman C Kidney Diseases, Feinberg School of Medicine, Northwestern University and the Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
• Lonie L Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Luck J Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
• McCarthy D Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• McGowan SJ Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
• McMullin MF Centre for Cancer Research and Cell Biology, Queen's University, Belfast, UK.
• Miller KA Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
• Murray L Illumina Cambridge Limited, Saffron Walden, UK.
• Németh AH Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
• Nesbit MA Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, UK.
• Nutt D Centre for Neuropsychopharmacology, Division of Brain Sciences, Imperial College, London, UK.
• Ormondroyd E Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
• Oturai AB Danish Multiple Sclerosis Center, Department of Neurology, Copenhagen University Hospital, Copenhagen, Denmark.
• Pagnamenta A NIHR Comprehensive Biomedical Research Centre, Oxford, UK.
• Patel SY Primary Immunodeficiency Unit, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
• Percy M Department of Haematology, Belfast City Hospital, Belfast, UK.
• Petousi N Nuffield Department of Medicine, University of Oxford, Oxford, UK.
• Piazza P Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Piret SE Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, UK.
• Polanco-Echeverry G Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Popitsch N NIHR Comprehensive Biomedical Research Centre, Oxford, UK.
• Powrie F Translational Gastroenterology Unit, University of Oxford, Oxford, UK.
• Pugh C Nuffield Department of Medicine, University of Oxford, Oxford, UK.
• Quek L MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
• Robbins PA Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.
• Robson K MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
• Russo A Department of Pediatrics, University Hospital, Mainz, Germany.
• Sahgal N Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• van Schouwenburg PA Primary Immunodeficiency Unit, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
• Schuh A NIHR Comprehensive Biomedical Research Centre, Oxford, UK.
• Silverman E Division of Rheumatology, The Hospital for Sick Children, Toronto, Ontario, Canada.
• Simmons A MRC Human Immunology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
• Sørensen PS Danish Multiple Sclerosis Center, Department of Neurology, Copenhagen University Hospital, Copenhagen, Denmark.
• Sweeney E Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK.
• Taylor J NIHR Comprehensive Biomedical Research Centre, Oxford, UK.
• Thakker RV Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, UK.
• Tomlinson I NIHR Comprehensive Biomedical Research Centre, Oxford, UK.
• Trebes A Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Twigg SR Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
• Uhlig HH Translational Gastroenterology Unit, University of Oxford, Oxford, UK.
• Vyas P MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
• Vyse T Division of Genetics, King's College London, Guy's Hospital, London, UK.
• Wall SA Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, Oxford, UK.
• Watkins H Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
• Whyte MP Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St Louis, Missouri, USA.
• Witty L Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Wright B Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Yau C Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Buck D Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• Humphray S Illumina Cambridge Limited, Saffron Walden, UK.
• Ratcliffe PJ Nuffield Department of Medicine, University of Oxford, Oxford, UK.
• Bell JI Office of the Regius Professor of Medicine, University of Oxford, Oxford, UK.
• Wilkie AO Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
• Bentley D Illumina Cambridge Limited, Saffron Walden, UK.
• Donnelly P Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
• McVean G Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

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Base Sequence

DNA Mutational Analysis

Genetic Diseases, Inborn

Genome, Human

High-Throughput Nucleotide Sequencing

Humans

Molecular Diagnostic Techniques

Molecular Sequence Annotation

Polymorphism, Single Nucleotide

Sensitivity and Specificity