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Concordance of Automated ACMG Variant Classification with Expert-Curated Assertions: A Systematic Evaluation Using the ClinGen Evidence Repository

2026-08-07

Abstract excerpt

<title>Abstract</title> <p>Background Automated ACMG/AMP variant classification tools are increasingly deployed in clinical genomics, yet systematic evaluations against expert-curated gold standards remain sparse. The ClinGen Evidence Repository provides Expert Panel-adjudicated classifications at the highest evidentiary tier, serving as an ideal concordance benchmark. Results We evaluated VarTriage, a streamin...

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Literature Corpus work
3601310c-bb60-5cbc-9c38-a18e7010500c
DOI
10.21203/rs.3.rs-10615801/v1
Open publication

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Concordance of Automated ACMG Variant Classification with Expert-Curated Assertions: A Systematic Evaluation Using the ClinGen Evidence RepositoryDOI 10.21203/rs.3.rs-10615801/v1
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