ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020

Sian Ellard, Emma L Baple, Alison Callaway, Ian Berry, Natalie Forrester, Clare Turnbull, Martina Owens, Diana M Eccles, Stephen Abbs, Richard Scott, Zandra C Deans, Tracy Lester, Jo Campbell, William G Newman, Simon Ramsden & Dominic J McMullan. https://www.acgs.uk.com/quality/best-practice-guidelines/

European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms: response to the comments from the Francophone Group of Hematological Cytogenetics (GFCH).

Rack KA, van den Berg E, Haferlach C, Beverloo HB, Costa D, Espinet B, Foot N, Jeffries S, Martin K, O'Connor S, Schoumans J, Talley P, Telford N, Stioui S, Zemanova Z, Hastings RJ. Leukemia. 2020 Aug;34(8):2262-2264. doi: 10.1038/s41375-020-0736-x. Epub 2020 Feb 7. PMID: 32042082; PMCID: PMC7387292.

Findings from the global external quality assessment of lung cancer liquid biopsy testing. [POSTER]

J Fairley, M Cheetham, M Dennis, E Dequeker, C Keppens, F Fenizia, N Normanno, S Patton, E Rouleau, K van Casteren, ZC Deans. 2019 Association for Molecular Pathology (AMP) Annual Meeting, Baltimore, USA

Ensuring competency of clinicians and scientists classifying the pathogenicity of single nucleotide variants. [POSTER]

C Deans, F Khawaja, R Treacy. 2019 Asia Conference on Human Genetics, Manila, Phillipines.

Standardising copy number variant (CNV) and single nucleotide variants (SNV) classification through external quality assessment. [POSTER]

R Hastings, K Rack, F Khawaja, R Treacy, ZC Deans. 2019 Asia Conference on Human Genetics, Manila, Phillipines.