Ensuring competency of clinicians and scientists classifying the pathogenicity of single nucleotide variants. [POSTER]

C Deans, F Khawaja, R Treacy. 2019 Asia Conference on Human Genetics, Manila, Phillipines.

Standardising copy number variant (CNV) and single nucleotide variants (SNV) classification through external quality assessment. [POSTER]

R Hastings, K Rack, F Khawaja, R Treacy, ZC Deans. 2019 Asia Conference on Human Genetics, Manila, Phillipines.

External Quality Assessment (EQA) for genomics and clinical genetics - ensuring the quality of the entire genetics service. [POSTER]

R Hastings, K Rack, J Fairley, F Morgan, M Sales, ZC Deans. 2019 European Cytogeneticist Association (ECA) Conference, Salzburg, Austria

Newborn screening EQA for cystic fibrosis (CF) and Medium-chain acyl-CoA dehydrogenase deficiency (MCADD): ten year review (2008-2018). [POSTER]

F Moon, R Treacy, ZC Deans. 2019 European Society of Human Genetics (ESHG) conference, Uppsala, Sweden.

Individual assessment for single nucleotide variant classification using the Genomics Training, Assessment and Competency Tool (G-TACT). [POSTER]

R Treacy, F Khawaja, ZC Deans. 2019 European Society of Human Genetics (ESHG) conference, Uppsala, Sweden.