Article

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

2025-11-27

Abstract excerpt

<h4>Importance</h4> Variant classification underpins clinical genetics. We examine the impact of classification framework updates and the utility of semi-quantitative scores for interpreting variants of uncertain significance (VUS). <h4>Objective</h4> Evaluate the impact of Sherloc on variant classification and VUS reduction in a large dataset. <h4>Design</h4> Cohort study using variant classification data gene...

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Literature Corpus work: 56c4ab9e-aed7-5b1d-b7ff-f8865f043558
DOI: 10.1101/2025.11.24.25340888

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