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From Expert Judgment to Structured Guidelines: A Brief History and Bright Future of DNA Variant Interpretation.

Annals of human genetics - 1 Sept 2025

Laner Andreas, Zilfalil Bin Alwi, Hamed Sherifa Ahmed, Do Huy, Lopes-Cendes Iscia, Shrestha Tilak, Tobias Edward, Solano Angela, Hamosh Ada, Kumar Dhavendra

Abstract excerpt

BACKGROUND: The classification of sequence variants is at the core of human genetic diagnostics and is the basis for clinical guidance - incorrectly classified variants may cause great harm to patients and their families. METHODS: We provide an overview of the evolution of ideas and algorithms that have led to the formulation of elaborate classification systems over the last decades, culminating in the ACMG/AMP...

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PMID: 40660810
DOI: 10.1111/ahg.70009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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