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Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.

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第一作者: Alice,Garrett
第一单位: Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom.
作者单位: Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom. [1] Central and South Genomic Laboratory Hub, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom. [2] North East and Yorkshire Genomic Laboratory Hub, Central Lab, The Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom. [3] Ambry Genetics, Aliso Viejo, CA. [4] North East and Yorkshire Genomic Laboratory Hub, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom. [5] The Manchester Centre for Genomic Medicine and North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, Manchester, United Kingdom. [6] East Genomic Laboratory Hub, Cambridge University Hospitals Genomic Laboratory, Cambridge University Hospitals, Cambridge, United Kingdom. [7] Central and South Genomics Laboratory Hub, Wessex Regional Genetics Laboratory, Salisbury Hospital NHS Foundation Trust, Salisbury District Hospital, Salisbury, United Kingdom. [8] Cancer Sciences, Faculty of Medicine, University of Southampton, Southampton, United Kingdom; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, United Kingdom. [9] Department of Medical Genetics, University of Cambridge and Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; East Anglian Medical Genetics Unit, Cambridge University Hospitals NHS Trust, Cambridge, United Kingdom. [10] St. George's University, London, United Kingdom; Department of Clinical Genetics, St. George's University Hospitals NHS Foundation Trust, London, United Kingdom. [11] Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, London, United Kingdom. [12] Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom. [13] Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre (MAHSC), Manchester University NHS Foundation Trust, Manchester, United Kingdom; Division of Evolution and Genomic Sciences, School of Biological Sciences, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, Manchester, United Kingdom. [14] University of Paris, PARCC, INSERM, Equipe Labellisée par la Ligue contre le Cancer, Paris, France; Genetics Department, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France. [15] National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, United Kingdom; Royal Brompton and Harefield Hospitals, London, United Kingdom. [16] The Wellcome Centre for Human Genetics, University of Oxford, Oxford, United Kingdom; The Centre for Personalised Medicine, St Anne's College, University of Oxford, Oxford, United Kingdom. [17] Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom; Department of Clinical Genetics, St. George's University Hospitals NHS Foundation Trust, London, United Kingdom. [18] Department of Medical Genetics, University of Cambridge and Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom. [19] Division of Genetics and Epidemiology, The Institute of Cancer Research, Sutton, United Kingdom; Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, London, United Kingdom. Electronic address: clare.turnbull@icr.ac.uk. [20]
DOI 10.1016/j.gim.2021.08.004
PMID 34906457
发布时间 2025-05-30
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Genetics in medicine : official journal of the American College of Medical Genetics

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