Association for Clinical Genomic Science (ACGS) Best Practice Guidelines for Variant Classification in Rare Disease
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Abstract
Revised ACGS variant classification guidelines 2026.
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View paper (DOI)Open access versionOpenAlexZenodo (CERN European Organization for Nuclear Research)Published 2026-09-09
Authors: Miranda Durkie, Emma-Jane Cassidy, Martina Owens, I Berry, J Taylor, Shaun Haigh, Clare Turnbull, Richard H. Scott, Robert W. Taylor, Zandra C. Deans, Sian Ellard, Emma L. Baple, Dominic McMullan
Institutions: University of Exeter, University of Edinburgh, Centre for Human Genetics, Royal Devon and Exeter Hospital, Phillips Exeter Academy, Center for Genomic Science, Royal Devon & Exeter NHS Foundation Trust, Genomics (United Kingdom), Bristol Robotics Laboratory, Hunter Genetics, Genomics England, Wessex Regional Genetics Laboratory, Wellcome Centre for Mitochondrial Research