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
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
International Congress of Korean Association of External Quality Assessment Service (KEQAS), Seoul, South Korea, 2026
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