ReviewScience China. Life sciences2025
Sequencing and characterizing human mitochondrial genomes in the biobank-based genomic research paradigm.
Review in Science China. Life sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed.
- Large-scale human genomic resources drive innovations toward forensic intelligent source attribution and precision identification.International journal of legal medicine · 2026Review
- Large-scale mitogenome analysis reveals complex maternal genetic connections between Sino-Tibetan- and Altaic-speaking populations.Human genetics · 2026Article
- Tracing the genetic legacy of Altaic-speaking populations suggested long-distance migration and multi-source admixture shape the genomic diversity of Xibe and Daur.Human genetics · 2026Article
- Complex peopling history and expansion events inferred from large-scale modern and ancient Y chromosome sequences.Science advances · 2026Article
- Article
- Multiple southward migrations of Neolithic Chinese farmers into Southeast Asia revealed from large-scale Y-chromosome sequences.Science advances · 2026Article
- Northeast india: genetic inconsistency across ethnicity and geography.Molecular genetics and genomics : MGG · 2026Article
- Article
- Genetic diversity and differentiated adaptive strategies for underrepresented populations at the crossroad of Southeast and East Asia.BMC genomics · 2026Article
- YanHuang Paternal Genomic Resource Suggests A Weakly-differentiated Multi-source Admixture in the Formation of Han Founding Ancestral Lineages.Genomics, proteomics & bioinformatics · 2025Article
- Ancient genomes give insight into 160,000 years of East Asian population dynamics and biological adaptation.Genome biology · 2025Review
- Patrilineages of ethnolinguistically diverse populations reveal multifactorial influences on Chinese paternal population stratification.BMC biology · 2025Article
- Human Population Genetic History and Evolutionary Dynamics on the Eastern Tibetan Plateau.Molecular biology and evolution · 2025Article
- Mitochondrial Genome Variants and Nuclear Mitochondrial DNA Segments in 7331 Individuals from NyuWa and 1KGP.Genomics, proteomics & bioinformatics · 2025Article
- Integrated genetic and geographic ancestry prediction via large-scale genomic data and machine learning.Human genomics · 2025Article
- Bioinformatic insights into five Chinese population substructures inferred from the East Asian-specific AISNP panel.BMC genomics · 2025Article
- YHSeqY3000 panel captures all founding lineages in the Chinese paternal genomic diversity database.BMC biology · 2025Article
- Genomic insights into Neolithic founding paternal lineages around the Qinghai-Xizang Plateau using integrated YanHuang resource.iScience · 2024Article
- Whole mitochondrial genome analyses of Han population from Shandong of China using massively parallel sequencing.Frontiers in genetics · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 functions of mtDNA remain unresolved or underexplored, particularly in the transition from traditional genotyping to large-scale genomic analyses. This review summarizes recent advancements in data-driven genomic research and technological innovations that address these questions and clarify the biological impact of nuclear-mitochondrial segments (NUMTs) and mtDNA variants on human health, disease, and evolution. We propose a streamlined pipeline to comprehensively identify mtDNA and NUMT genomic diversity using advanced sequencing and computational technologies. Haplotype-resolved mtDNA sequencing and assembly can distinguish authentic mtDNA variants from NUMTs, reduce diagnostic inaccuracies, and provide clearer insights into heteroplasmy patterns and the authenticity of paternal inheritance. This review emphasizes the need for integrative multi-omics approaches and emerging long-read sequencing technologies to gain new insights into mutation mechanisms, the influence of heteroplasmy and paternal inheritance on mtDNA diversity and disease susceptibility, and the detailed functions of NUMTs.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.