Association for Clinical Genomic Science (ACGS) Best Practice Guidelines for Variant Classification in Rare Disease
Revised ACGS variant classification guidelines 2026.
Authors
- J Taylor
- Dominic McMullan (ORCID: https://orcid.org/0000-0002-3980-7595)
- Richard H. Scott (ORCID: https://orcid.org/0000-0002-9113-2978)
- Clare Turnbull (ORCID: https://orcid.org/0000-0002-1734-5772)
- Zandra C. Deans (ORCID: https://orcid.org/0000-0001-9361-6012)
- Miranda Durkie (ORCID: https://orcid.org/0000-0001-7071-7048)
- Sian Ellard (ORCID: https://orcid.org/0000-0002-7620-5526)
- Emma L. Baple (ORCID: https://orcid.org/0000-0002-6637-3411)
- Robert W. Taylor (ORCID: https://orcid.org/0000-0002-7768-8873)
- Emma-Jane Cassidy
- I Berry
- Martina Owens
- Shaun Haigh
Institutions
- Centre for Human Genetics (GB)
- University of Exeter (GB)
- Royal Devon & Exeter NHS Foundation Trust (GB)
- Phillips Exeter Academy (US)
- Royal Devon and Exeter Hospital (GB)
- Hunter Genetics (AU)
- Wessex Regional Genetics Laboratory (GB)
- Wellcome Centre for Mitochondrial Research (GB)
- Genomics England (GB)
- Center for Genomic Science (IT)
- Genomics (United Kingdom) (GB)
- Bristol Robotics Laboratory (GB)
- University of Edinburgh (GB)
Publication Details
- Journal
- Zenodo (CERN European Organization for Nuclear Research)
- Published
- 2026-09-09
- DOI
- https://doi.org/10.5281/zenodo.20831976
- Primary Topic
- Genomics and Rare Diseases
- Type
- preprint