Lessons from the 2022 GenQA ‘variant validation’ external quality assessment for combined reporting of single nucleotide and copy number variants. [POSTER]

Dave Cregeen, M. Sales, A. Williams, T. Bradley and Z. Deans
European Society of Human Genetics (ESHG2023) Glasgow, Scotland

Implementation of circulating tumour DNA multi-target mutation testing in plasma: a perspective from an external quality assessment providers' survey

Fairley JA, Badrick T, Denis MG, Dimitrova L, Goodall R, Maas J, Normanno N, Patton SJ, Rouleau E, Russo A, Stockley TL, Deans ZC. Implementation of circulating tumour DNA multi-target mutation testing in plasma: a perspective from an external quality assessment providers' survey. Virchows Arch. 2023 May 19. doi: 10.1007/s00428-023-03558-x. Epub ahead of print. PMID: 37202567.

Assessing the Quality of cfDNA Somatic Variant Testing in Clinical Practice [POSTER]

Zandra Deans, Melanie Cheetham, Simon Patton and Jennifer Fairley.
4th Annual Congress Liquid Biopsy (ISLB2022), Miami, Florida, USA.

The Challenges in Classifying Fusion Transcripts [POSTER]

Zandra Deans, Pauline Rehal, Hood Mugalaasi and Jennifer Fairley.
Association for Molecular Pathology (AMP2022), Phoenix, Arizona, USA.

Variability in Fetal Fraction Estimation: Comparing Fetal Fractions Reported by Noninvasive Prenatal Testing Providers Globally.

Becking EC, Linthorst J, Patton S, Gutowska-Ding W, Goodall R, Khawaja F, Morgan F, Deans Z, Chitty LS, Bekker MN, Scheffer PG, Sistermans EA. Variability in Fetal Fraction Estimation: Comparing Fetal Fractions Reported by Noninvasive Prenatal Testing Providers Globally. Clin Chem. 2022 Dec 28:hvac207. doi: 10.1093/clinchem/hvac207. Epub ahead of print. PMID: 36576352.