Non-invasive prenatal testing EQA – improving the detection of sex chromosome aneuploidies. [POSTER]

Fiona J. Morgan, Farrah Khawaja, Weronika Gutowska-Ding, Simon J. Patton, Zandra C. Deans
European Society of Human Genetics (ESHG2023) Glasgow, Scotland

One sample, multiple results. [POSTER]

Farrah Khawaja, D. Cregeen, L. Slater, I. Berry, M.P. Lombardi, D. O'Sullivan, S. Palmer-Smith and Z. Deans
European Society of Human Genetics (ESHG2023) Glasgow, Scotland

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.