Publications

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

A. Kolozi, D. Cregeen, M. Durkie, K. Stals, I. Berry , Z. Deans
The International Society for Vaccines (ISV) Annual Congress, 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.

Development of external quality assessment for Spinal Muscle Atrophy (SMA) newborn screening.

Sandra Romero, Dave Cregeen, Zandra Deans
ESPT Congress, Rotterdam, the Netherlands, 2025

Reference materials and external quality assessment for liquid biopsy assays: Expert opinions from the European Liquid Biopsy Society ctDNA workshop

Deans ZC, Fairley J, Patton SJ, Koch C, Toledo RA, Pantel K, Giacomini P, Schuuring E, Heitzer E, Joosse SA. Reference materials and external quality assessment for liquid biopsy assays: Expert opinions from the European Liquid Biopsy Society ctDNA workshop. Cancer Treat Res Commun. 2026;47:101151. doi: 10.1016/j.ctarc.2026.101151. Epub 2026 Feb 19. PMID: 41734680.

GENie: specialist Genomic Online Individual Education from GenQA

Angie Kolozi and Zandra Deans. Pathology in Practice, December 2025