Publications

Individual competency assessment for risk calculations using GENie

A. Kolozi, D. Cregeen, Z. Deans
European Society of Human Genetics (ESHG), Gothenburg, Sweden, 2026

International reproductive carrier screening testing assessed by external quality assessment.

Dave Cregeen, R. Navratil, A. Paulussen, D. Phelan and Z. Deans
European Society of Human Genetics (ESHG), Gothenburg, Sweden, 2026

Enhancing the quality and consistency of genomic testing for Differences in Sex Development (DSD) through External Quality Assessment

M. Tabiner, R. Treacy, K. Huijsdens-van Amsterdam, C. Bowles, L. Young, P. Fulton, Z. Deans.
European Society of Human Genetics (ESHG), Gothenburg, Sweden, 2026

Prioritising Genetic Variants: WGS/WES Proportionate Variant Analysis assessment using GENie

A. Kolozi, D. Cregeen, M. Durkie, K. Stals, I. Berry , Z. Deans
International Symposium on Variants in the Genome (ISV), Leuven, Belgium, 2026

Association for Clinical Genomic Science (ACGS) guidelines for the classification of oncogenicity of somatic variants in cancer: recommendations by the UK somatic variant interpretation group (SVIG-UK)

Burghel GJ, Mason J, Baker K, Moloney K, McKeeve CH, Cartwright A, Brás-Goldberg AM, Travis D, Lewis S, Fairley JA, Williams J, Russell K, MacMahon S, Wragg C. Association for Clinical Genomic Science (ACGS) guidelines for the classification of oncogenicity of somatic variants in cancer: recommendations by the UK somatic variant interpretation group (SVIG-UK). J Med Genet. 2026 Feb 20;63(3):147-156. doi: 10.1136/jmg-2025-111046. PMID: 41339070; PMCID: PMC13018753.