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Sequencing and characterizing human mitochondrial genomes in the biobank-based genomic research paradigm.

Science China. Life sciences - 1 Jun 2025

Luo Lintao, Wang Mengge, Liu Yunhui, Li Jianbo, Bu Fengxiao, Yuan Huijun, Tang Renkuan, Liu Chao, He Guanglin

Abstract excerpt

Human mitochondrial DNA (mtDNA) harbors essential mutations linked to aging, neurodegenerative diseases, and complex muscle disorders. Due to its uniparental and haploid inheritance, mtDNA captures matrilineal evolutionary trajectories, playing a crucial role in population and medical genetics. However, critical questions about the genomic diversity patterns, inheritance models, and evolutionary and medical...

Topics

Humans
DNA, Mitochondrial
Genome, Mitochondrial
Genomics
Biological Specimen Banks
Genetic Variation
Mutation
Haplotypes
Sequence Analysis, DNA
Mitochondria
Heteroplasmy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39843848
DOI: 10.1007/s11427-024-2736-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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