HGVS Nomenclature 2024: Improvements to community engagement, usability, and computability
Hart RK, Fokkema IFAC, DiStefano M, Hastings R, Laros JFJ, Taylor R, Wagner AH, den Dunnen JT. HGVS Nomenclature 2024: improvements to community engagement, usability, and computability. Genome Med. 2024 Dec 20;16(1):149. doi: 10.1186/s13073-024-01421-5. PMID: 39702242; PMCID: PMC11660784.
Accurately assessing the quality and quantity of cfDNA extractions
Fiona Moon, Jennifer A Fairley, Sanchita Jamindar, Krystyna Nahlik, Zandra C Deans.
36th European Congress of Pathology (ECP) 2024, Florence, Italy
Developing EQA for HRD testing in ovarian cancer
Jennifer A Fairley, Zandra C Deans
36th European Congress of Pathology (ECP) 2024, Florence, Italy
Annual review of GenQA activities from April 2023-March 2024.
Global practice to carrier screening - through external quality assessment [POSTER]
Zandra Deans, Dean Phelan, Rostislav Navratil, Dave Cregeen
International Society for Prenatal Diagnosis (ISPD) 2024, Boston, USA