Variant Curation and Classification in Rare Disease Genomics: Standards and Emerging Tools for Single-Nucleotide Variant Analysis

Archives of Medical Research · Published 2026-07-24 · DOI 10.1016/j.arcmed.2026.103492

Authors (5)

Jimena Barraza García, Marta García, Leire Echepare Olivera, Carlos Iván Rivera Pedroza, Víctor del Nogal Soler

Abstract

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Publication details

Year

2026

Citation

García, J., García, M., Olivera, L., et al. (2026). Variant Curation and Classification in Rare Disease Genomics: Standards and Emerging Tools for Single-Nucleotide Variant Analysis. Archives of Medical Research. https://doi.org/10.1016/j.arcmed.2026.103492

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