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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...

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

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