Workshops to improve use of functional evidence build confidence and suggest a practice development approach.
Rehan Marie Villani, Bronwyn Terrill, Emma Tudini, Ebony Matotek, Tessa Mattiske, Corrina C. Cliffe, Bryony A. Thompson, Laveniya Satgunaseelan, Christopher Norman Hahn, Ben Lundie, John Christodoulou, Alan F. Rubin, 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.
medRxiv · Nov 10, 2025 · PreprintGenetic & Genomic Medicine