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Publications

ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2024

Miranda Durkie, Emma-Jane Cassidy, Ian Berry, Martina Owens, Clare Turnbull, Richard H Scott, Robert W Taylor, Zandra C Deans, Sian Ellard, Emma L Baple and Dominic J McMullan. https://www.acgs.uk.com/quality/best-practice-guidelines/

A framework for the clinical implementation of optical genome mapping in hematologic malignancies.

Levy B, Kanagal-Shamanna R, Sahajpal NS, Neveling K, Rack K, Dewaele B, Olde Weghuis D, Stevens-Kroef M, Puiggros A, Mallo M, Clifford B, Mantere T, Hoischen A, Espinet B, Kolhe R, Solé F, Raca G, Smith AC. A framework for the clinical implementation of optical genome mapping in hematologic malignancies. Am J Hematol. 2024 Jan 2. doi: 10.1002/ajh.27175. Epub ahead of print. PMID: 38164980.

Genome Mapping Nomenclature

Moore S, McGowan-Jordan J, Smith AC, Rack K, Koehler U, Stevens-Kroeg M, Barseghyan H, Kanagal-Shamanna R, Hastings R; ISCN Standing Committee. Genome Mapping Nomenclature. Cytogenet Genome Res. 2023 Dec 8. doi: 10.1159/000535684. Epub ahead of print. PMID: 38071973.

Clinical genetics and genetic counselling external quality assessment (EQA) provision [POSTER]

M. Tabiner, R. Hastings, K. Rack, Z. Deans
American Society of Human Genetics (ASHG2023), Washington DC, USA

The challenges of variant classification – a snapshot of reality through proficiency testing [POSTER]

S. Deans, D. Cregeen, F. Khawaja, M. Tabiner, R. Treacy
American Society of Human Genetics (ASHG2023), Washington DC, USA