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MSeqDR PMD-VR: An Expert-Curated Virtual Registry of 11,000 Mitochondrial Disease Cases Established Through Literature Mining and Generative AI Augmentation.

Genes - 30 Jun 2026

Shen Lishuang, Lott Marie T, Mccormick Elizabeth M, Muraresku Colleen C, Keller Kierstin, Wallace Douglas C, Zolkipli-Cunningham Zarazuela, Rahman Shamima, Falk Marni J, Gai Xiaowu

Abstract excerpt

Background/Objectives: Patient registries are essential for rare disease research, yet the extensive genetic and phenotypic heterogeneity of primary mitochondrial diseases (PMDs) makes traditional registry development slow and resource-intensive. We established the MSeqDR PMD virtual registry (PMD-VR) to address this gap through systematic literature mining and semi-automated data harmonization. Methods: The...

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PMID: 42510797
DOI: 10.3390/genes17070757
PMCID: PMC13408853

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