Publications

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)

George J Burghel, Joanne Mason, Kevin Baker, Kate Moloney, Claire McKeeve, Ashley Cartwright, Ana M Brás-Goldberg, Debbie Travis, Siân Lewis, Jennifer A Fairley, Jonathan Williams, Kirsty Russell, Suzanne Macmahon, Christopher Wragg.

Global Delivery of Foetal Sequencing: Do We Need Some Standardisation?

Chandler NJ, Deans ZC. Global Delivery of Foetal Sequencing: Do We Need Some Standardisation? Prenat Diagn. 2025 Jul 25. doi: 10.1002/pd.6866. Epub ahead of print. PMID: 40709701.

Introducing GENie: A two-year journey of discovery and competency

A. Kolozi, M. Sales, D. Cregeen, R. Hastings, Z. Deans
European Society for Human Genetics (ESHG 2025), Milan, Italy

Individual competence assessment of WGS/WES proportionate variant analysis using the GENie platform

Miranda Durkie, Angie Kolozi, Karen Stals, Joseph Leslie, Martina Owens, Dave Cregeen, Ian Berry, Rachael Mein, Andy Parrish, Emma Baple, Zandra Deans
European Society for Human Genetics (ESHG 2025), Milan, Italy

Assessing extraction efficiency of DNA for long read sequencing

Fiona Moon and Zandra Deans
European Society for Human Genetics (ESHG 2025), Milan, Italy