Association for Clinical Genomic Science (ACGS) Best Practice Guidelines for Variant Classification in Rare Disease

Authors

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)
Ian Berry
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 William Taylor (ORCID: https://orcid.org/0000-0002-7768-8873)
Emma-Jane Cassidy
John Taylor
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.22671707
Primary Topic: Genomics and Rare Diseases
Type: preprint

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preprint

Association for Clinical Genomic Science (ACGS) Best Practice Guidelines for Variant Classification in Rare Disease

Dominic McMullan, Richard H. Scott, Clare Turnbull, Ian Berry et al.

Sep 9, 2026

Zenodo (CERN European Organization for Nuclear Research)

Genomics and Rare Diseases

preprint

Association for Clinical Genomic Science (ACGS) Best Practice Guidelines for Variant Classification in Rare Disease

Dominic McMullan, Richard H. Scott, Clare Turnbull, Ian Berry, Zandra C. Deans, Miranda Durkie, Sian Ellard, Emma L. Baple, Robert William Taylor, Emma-Jane Cassidy, John Taylor, Martina Owens, Shaun Haigh

September 9, 2026preprint en

Abstract

No abstract available for this paper.

Zenodo (CERN European Organization for Nuclear Research)

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)

Genomics and Rare Diseases

DOI Open Access PDF OpenAlex

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