Health AI Central
Peer-Reviewed Publication
J Mol Diagn2026September 22, 2026Journal Article

The ten-year evolution of Sherloc, a points-based framework for genetic variant classification.

Yuya Kobayashi1, Marjorie Jody Westbrook2, Christopher A Tan2, Carla Marquez Luna2, Alexander Wahl2, Daniel Swartzlander2, Karen Ouyang2, Robert D Daber2
1Labcorp (formerly Invitae Corporation), San Francisco, CA. Electronic address: yuya.kobayashi@labcorp.com.
2Labcorp (formerly Invitae Corporation), San Francisco, CA.
PubMed DOI

Abstract

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 testing. Here, iterative updates to Sherloc over ten years were evaluated for their…

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