Open access
Sep 2026
The ten-year evolution of Sherloc, a points-based framework for genetic variant classification.
Variant classification underpins the clinical utility of genetic testing. Sherloc is a refinement of the 2015 ACMG/AMP guidelines that implements a structured, points-based scoring framework. It has been applied to 2.6 million variants through 19 versions (v4.2-v7.1) for 5.5 million individuals referred for genetic tes...
Y. Kobayashi, M. Westbrook, Christopher A. Tan et al.
· Journal of Molecular Diagnos... · 0 citations