Development of an external quality assessment for trio exome sequencing [POSTER]
Dave Cregeen, J Baptista, H Robinson, K Stals and Z Deans
European Human Genetics conference (ESHG) 2024, Berlin, Germany
M.Tabiner, D.Cregeen, F.Khawaja, M.Sales, R.Treacy and Z.Deans
International Symposium of Variants in the Genome (ISV) 2024, Porto, Portugal
Introducing GENie, a genomics online individual education platform [POSTER]
M.Tabiner, D.Cregeen, F.Khawaja, M.Sales, R.Treacy and S.Deans
Joint UK/Dutch Clinical Genetics Societies & Cancer Genetics Groups Meeting 2024, London, UK
ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2024
Miranda Durkie, Emma-Jane Cassidy, Ian Berry, Martina Owens, Clare Turnbull, Richard H Scott, Robert W Taylor, Zandra C Deans, Sian Ellard, Emma L Baple and Dominic J McMullan. https://www.acgs.uk.com/quality/best-practice-guidelines/
A framework for the clinical implementation of optical genome mapping in hematologic malignancies.
Levy B, Kanagal-Shamanna R, Sahajpal NS, Neveling K, Rack K, Dewaele B, Olde Weghuis D, Stevens-Kroef M, Puiggros A, Mallo M, Clifford B, Mantere T, Hoischen A, Espinet B, Kolhe R, Solé F, Raca G, Smith AC. A framework for the clinical implementation of optical genome mapping in hematologic malignancies. Am J Hematol. 2024 Jan 2. doi: 10.1002/ajh.27175. Epub ahead of print. PMID: 38164980.