Genetic & Genomic MedicinemedRxivPreprint
Workshops to improve use of functional evidence build confidence and suggest a practice development approach.
Rehan Marie Villani, Bronwyn Terrill, Emma Tudini…·Amanda B. Spurdle
The paper presents a workshop-based approach to improve confidence and standardize the use of functional evidence in variant classification through community discussion and consultation.
DOI 10.1101/2025.11.10.25339935