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Availability of benign missense variant "truthsets" for validation of functional assays: Current status and a systematic approach.

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第一作者: Charlie F,Rowlands
第一单位: Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
作者单位: Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK. [1] Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK; St George's University Hospitals NHS Foundation Trust, Tooting, London, UK. [2] Sheffield Diagnostic Genetics Service, NEY Genomic Laboratory Hub, Sheffield Children's NHS Foundation Trust, Sheffield, UK. [3] Manchester Centre for Genomic Medicine and NW Laboratory Genetics Hub, Manchester University Hospitals NHS Foundation Trust, Manchester, UK; Division of Cancer Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK. [4] Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK. [5] Central and South Genomics Laboratory Hub, Wessex Genomics Laboratory Service, University Hospital Southampton NHS Foundation Trust, Salisbury, UK. [6] Genomics and Molecular Medicine Service, Nottingham University Hospitals NHS Trust, Nottingham, UK. [7] St George's University Hospitals NHS Foundation Trust, Tooting, London, UK. [8] Wales Genomic Health Centre, Cardiff and Vale University Health Board, Cardiff, UK. [9] Laboratory Genetics, Queen Elizabeth University Hospital, NHS Greater Glasgow and Clyde, Glasgow, UK. [10] South East Scotland Clinical Genetics, Western General Hospital, Edinburgh, UK. [11] Department of Clinical Genetics, CHI at Crumlin, Dublin, Ireland. [12] Peninsula Regional Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK; Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Exeter, UK. [13] The Royal Marsden NHS Foundation Trust, Fulham Road, London, UK. [14] Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK; The Royal Marsden NHS Foundation Trust, Fulham Road, London, UK. Electronic address: turnbull.lab@icr.ac.uk. [15]
DOI 10.1016/j.ajhg.2025.08.014
PMID 40925377
发布时间 2025-12-13
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American journal of human genetics

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