Article

A Scalable Framework for Harmonized mtDNA Analysis Across Diverse Biobanks

2026-08-25

Abstract excerpt

Mitochondrial DNA (mtDNA) is increasingly recognized as an important contributor to human disease and population variation, yet most genomic biobanks do not provide standardized mtDNA variant datasets despite abundant mitochondrial sequencing reads in existing whole exome and whole-genome sequencing data. We developed a scalable framework based on the Mitoverse mtDNA Server 2 Fusion workflow to generate harmonized...

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Literature Corpus work: 9f6affec-2e4f-57ad-b868-d23bcdb3f527
DOI: 10.64898/2026.08.21.26361041

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