The ten year evolution of Sherloc, a points-based framework for genetic variant classification
Yuya Kobayashi, Marjorie Jody Westbrook, Christopher A. Tan, Carla Márquez‐Luna, Alexander Wahl, Daniel B. Swartzlander, Karen Ouyang, Robert D. Daber
The paper evaluates how updates to the Sherloc variant classification framework reduced variants of uncertain significance (VUS) and improved accuracy over time.
medRxiv · Nov 24, 2025 · PreprintGenetic & Genomic Medicine