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ACGS Best Practice Guidelines for Variant Classification 2019

Copyright ACGS 2019 Page 1 ACGS Best Practice Guidelines for Variant Classification 2019 Sian Ellard1,2, Emma L Baple2,3,4, Ian Berry5, Natalie Forrester6, Clare Turnbull4, Martina Owens1, Diana M Eccles7, Stephen Abbs8, Richard Scott4,9, Zandra C Deans10, Tracy Lester11, Jo Campbell12, William G Newman13,14 and Dominic J McMullan15 1. Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, EX2 5DW, UK. 2. University of Exeter Medical School, Exeter, EX2 5DW, UK. 3. Department of Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, EX2 5DW, UK. 4.

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UK. ... challenge and is contingent upon a robust understanding of the molecular aetiology of the ... population data and in …

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