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Barbara Slapnik

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Articles

Comparative evaluation of manual and automated ACMG/AMP variant classification: implications for clinical genetic practice

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By Klementina Črepinšek, Maruša Debeljak, Barbara Slapnik
| Nature Verified
Abstract Automated implementations of the ACMG/AMP variant classification guidelines are increasingly used to support clinical genomics, yet systematic comparisons with expert human curation remain limited. In this study, we benchmarked several widely used automated and AI‑assisted tools, including Franklin, VarSome, MobiDetails, GeneBe, InterVar, and VarChat, against dual independent curator assessments across diverse variant types.
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