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Mitochondrial Genome Variants and Nuclear Mitochondrial DNA Segments in 7331 Individuals from NyuWa and 1KGP.

Genomics, proteomics & bioinformatics - 28 Oct 2025

Wang 王园鑫 Yuanxin, Wang 王佳佳 Jiajia, Li 李燕燕 Yanyan, Zhang 张鹏 Peng, Wang 王中龙 Zhonglong, Liu 刘帅 Shuai, Niu 牛仪伟 Yiwei, Shi 史忆戎 Yirong, Zhang 张斯佳 Sijia, Song 宋廷瑞 Tingrui, Xu 徐涛 Tao, He 何顺民 Shunmin

Abstract excerpt

Dysfunctional mitochondria are implicated in various diseases, but comprehensive characterization of mitochondrial DNA (mtDNA) in the Chinese population remains limited. Here, we conducted a systematic analysis of mtDNA from 7331 samples, comprising 4129 Chinese samples from the NyuWa cohort and 3202 samples from the 1000 Genomes Project (1KGP). We identified 7216 high-quality mtDNA variants, which classified...

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PMID: 41206126
DOI: 10.1093/gpbjnl/qzaf098
PMCID: PMC12790922

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