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Article

Comprehensive evaluation of ACMG/AMP-based variant classification tools.

Bioinformatics (Oxford, England) - 3 Feb 2026

Ghasemnejad Tohid, Liang Yuheng, Jahanian Khadijeh Hoda, Eidi Milad, Salmaninejad Arash, Abedini Seyedeh Sedigheh, Horta Fabrizzio, Lovell Nigel H, Porntaveetus Thantrira, Grosser Mark, Aarabi Mahmoud, Alinejad-Rokny Hamid

Abstract excerpt

MOTIVATION: The American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines represent the gold standard for clinical variant interpretation. Despite the widespread adoption of ACMG/AMP guidelines, a comprehensive comparison of the software tools designed to implement them has been lacking. This represents a significant gap, as clinicians require evidence-based...

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PMID: 41688871
DOI: 10.1093/bioinformatics/btaf623
PMCID: PMC12916173

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