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Evaluation of a 5‐Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter‐Reviewer Variability and Promotion of Minimum Reporting Guidelines
Authors:Logan C Walker  Phillip J Whiley  Claude Houdayer  Thomas V O Hansen  Ana Vega  Marta Santamarina  Ana Blanco  Laura Fachal  Melissa C Southey  Alan Lafferty  Mara Colombo  Giovanna De Vecchi  Paolo Radice  Amanda B Spurdle
Institution:1. Department of Pathology, University of Otago, , Christchurch, New Zealand;2. Molecular Cancer Epidemiology Laboratory, Genetics and Computational Biology Division, Queensland Institute of Medical Research, , Herston, Queensland, Australia;3. School of Chemistry and Molecular Biosciences, University of Queensland, , Brisbane, Queensland, Australia;4. Service de Génétique, INSERM U830, Institut Curie et Université Paris Descartes, Sorbonne Paris Cité, , Paris, France;5. Center for Genomic Medicine, Copenhagen University Hospital, , Rigshospitalet, Copenhagen, Denmark;6. Fundación Pública Galega de Medicina Xenómica‐SERGAS, Grupo de Medicina Xenómica‐USC, CIBERER, IDIS, , Santiago de Compostela, Spain;7. Grupo de Medicina Xenómica ‐USC, University of Santiago de Compostela, CIBERER, , IDIS, Santiago de Compostela, Spain;8. Epidemiology Laboratory, Department of Pathology, The University of Melbourne, , Melbourne, Victoria, Australia;9. West of Scotland Regional Genetics Service, Southern General Hospital, , Glasgow, United Kingdom;10. Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predicted Medicine, Fondazione IRCCS Istituto Nazionale dei Tumouri (INT), , Milan, Italy
Abstract:
Keywords:BRCA1  BRCA2  splicing assays  classification
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