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Christopher A. Tan

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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. · 0 citations

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