ESHG 2025 – Milan
Our HGVS Workshop
Our Posters
Learnings from five years of External Quality Assessment (EQA) for porphyrias
Author: Taylor R.L., Woodcock, M. Barbaro, M., Friesema, E., Williams, V. and Patton, S
Presenting Author: Dr Rachel Taylor
Poster session:
Common causes of genotyping error; Trends over time’
Author & Affilations: India Roderick , Simon Patton, Weronika Gutowska-Ding , Victoria Williams, Charlie Shaw
Presenting Author: India Roderick
Poster session: P16.027.B
Poster viewing session B (4-5pm 25/02/25)
Beyond compliance: how external quality assessment drives laboratory improvement over time
Evidence from a longitudinal study of EQA data from genomic testing laboratories
Authors & Affiliations: Weronika Gutowska-Ding, Victoria Williams, Charlotte Shaw, Melanie Cheetham, Simon Patton.
Presenting Author: Weronika Gutowska-Ding
Poster session:
External Quality Assessment for Hereditary Amyloidosis: Assuring Test Standards to Support the Identification of Patients Eligible for Treatment
Authors: Izabela Eden, Rachel Taylor, Mario Nuvolone, Jan D.H. Jongbloed, Victoria Williams, Simon Patton, Dorota Rowczenio.
Presenting Author: Iza Eden
Poster session: P16.032.C
Poster viewing session: C (1-2pm 26/02/25)
Molecular Variant Detection in Non-small Cell Lung Cancer- Internal Validation and External Quality Control
Presenting Author: Ursula Lechowicz
Description of two patients with Prader-Willi syndrome due to a very rare mosaic imprinting defect
Presenting Author: Jasmin Beygo
Challenging the use of proxies in genotyping analysis for DPYD and UGT1A1
Presenting Author: Giada Scantamburlo
Our Assessor Vacancies
Molecular Pathology
- Homologous recombination deficiency (HRD) testing
- ESR1 testing in breast cancer cfDNA (plasma)
- Urothelial cell carcinoma (UCC) (FGFR) [Tissue]
- Fusion testing in solid tumour
- Lung Cancer (NSCLC) [Tissue]
- Microsatellite instability (MSI)
- Breast cancer (AKT pathway gene testing (PIK3CA, AKT1, PTEN) [Tissue]
Technical Assessment
- Pharmacogenetics
Genomic & Inherited Disorders
- SAID
- Monodiab
- Polyposis
- MEN2
- PKU
- SMA
- ADKPD
- OI
- HD
- SHOX
Other Relevant Documents
HGVS Nomenclature 2024: improvements to community engagement, usability, and computability
Lung Cancer (NSCLC) [Tissue] Common Biomakers EQA 2024
2024 External quality assessment (EQA) for Next Generation Sequencing (Germline SNVs and indels) Post-Appeals Final Summary Report
