ArticleMitochondrion2019
Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution.
Article in Mitochondrion, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
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The trial behind it
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
46 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Comprehensive summary of mitochondrial DNA alterations in the postmortem human brain: A systematic review.EBioMedicine · 2022Pooled it
- De Novo Assembly and Comparative Analysis of the Complete Mitochondrial Genome ofEcology and evolution · 2026Article
- A novel m.14677 T > C variant in mitochondrial tRNAJournal of human genetics · 2025Article
- MitSorter: a standalone tool for accurate discrimination of mtDNA and NuMT ONT reads based on differential methylation.Bioinformatics advances · 2025Article
- Mitochondrial sequence variants: testing imputation accuracy and their association with dairy cattle milk traits.Genetics, selection, evolution : GSE · 2024Article
- Variant load of mitochondrial DNA in single human mesenchymal stem cells.Scientific reports · 2024Article
- Nanobiopsy investigation of the subcellular mtDNA heteroplasmy in human tissues.Scientific reports · 2024Article
- A PCR-independent approach for mtDNA enrichment and next-generation sequencing: comprehensive evaluation and clinical application.Journal of translational medicine · 2024Article
- Review: Computational analysis of human skeletal remains in ancient DNA and forensic genetics.iScience · 2023Review
- Next-generation sequencing reveals mitogenome diversity in plasma extracellular vesicles from colorectal cancer patients.BMC cancer · 2023Article
- Single-cell individual full-length mtDNA sequencing by iMiGseq uncovers unexpected heteroplasmy shifts in mtDNA editing.Nucleic acids research · 2023Article
- Quantitative haplotype-resolved analysis of mitochondrial DNA heteroplasmy in Human single oocytes, blastoids, and pluripotent stem cells.Nucleic acids research · 2023Article
- Mitochondrial single-cell ATAC-seq for high-throughput multi-omic detection of mitochondrial genotypes and chromatin accessibility.Nature protocols · 2023Review
- Targeted Sequencing Approach and Its Clinical Applications for the Molecular Diagnosis of Human Diseases.Cells · 2023Review
- mtDNA Maintenance and Alterations in the Pathogenesis of Neurodegenerative Diseases.Current neuropharmacology · 2023Review
- Mutation accumulation in mtDNA of cancers resembles mutagenesis in normal stem cells.iScience · 2022Article
- Mito-SiPE is a sequence-independent and PCR-free mtDNA enrichment method for accurate ultra-deep mitochondrial sequencing.Communications biology · 2022Article
- A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome.Nature communications · 2022Article
- Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk.American journal of human genetics · 2022Article
- Exploring statistical weight estimates for mitochondrial DNA matches involving heteroplasmy.International journal of legal medicine · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
The mitochondrial genome has recently become the focus of several high-impact next-generation sequencing studies investigating the effect of mutations in disease and assessing the efficacy of mitochondrial replacement therapies. However, these studies have failed to take into consideration the capture of recurring translocations of mitochondrial DNA to the nuclear genome, known as nuclear mitochondrial sequences (NUMTs), continuing to align sequence data to the revised Cambridge reference sequence alone. Here, using different mtDNA enrichment techniques and a variety of tissues, we demonstrate that NUMTs are present in sequence data and that, dependent upon downstream analysis, are at a level which affects variant calling.
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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 OpenQuestion graph.