Insights on improving accessibility and usability of functional data to unlock its potential for variant interpretation
Min Seon Park, Runjun D. Kumar, Cristian Ovadiuc, Andrew B. Folta, Abbye E. McEwen, Ashley M. Snyder, Douglas M. Fowler, Alan F. Rubin, Brian H. Shirts, Lea M. Starita, Andrew B. Stergachis
This study identifies barriers to using functional data in clinical variant interpretation and highlights the need for better access and standardized interpretation guidelines.
medRxiv · Jan 25, 2025 · PreprintGenetic & Genomic Medicine