ArticlePloS one2010
Mitochondrial DNA variant discovery and evaluation in human Cardiomyopathies through next-generation sequencing.
Article in PloS one, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 95 citations in OpenAlex.
- A full-length mtDNA dataset for studying genetic variations across generations and complex family structures.Scientific data · 2026Article
- Sequencing and characterizing human mitochondrial genomes in the biobank-based genomic research paradigm.Science China. Life sciences · 2025Review
- "Re-evaluation of variants of uncertain significance in patients with hereditary arrhythmogenic disorders".BMC cardiovascular disorders · 2024Article
- Mitochondrial Diabetes Is Associated with theBiomolecules · 2023Article
- The Mitochondrial tRNALife (Basel, Switzerland) · 2023Review
- Some Molecular and Cellular Stress Mechanisms Associated with Neurodegenerative Diseases and Atherosclerosis.International journal of molecular sciences · 2021Review
- Detection of Innate and Artificial Mitochondrial DNA Heteroplasmy by Massively Parallel Sequencing: Considerations for Analysis.Journal of Korean medical science · 2018Article
- Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing.Frontiers in genetics · 2018Review
- HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor.Nucleic acids research · 2017Article
- Heteroplasmy and Copy Number Variations of Mitochondria in 88 Hepatocellular Carcinoma Individuals.Journal of Cancer · 2017Article
- Simultaneous Whole Mitochondrial Genome Sequencing with Short Overlapping Amplicons Suitable for Degraded DNA Using the Ion Torrent Personal Genome Machine.Human mutation · 2015Article
- MitoRCA-seq reveals unbalanced cytocine to thymine transition in Polg mutant mice.Scientific reports · 2015Article
- Whole-mitochondrial genome sequencing in primary open-angle glaucoma using massively parallel sequencing identifies novel and known pathogenic variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Article
- Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?European journal of human genetics : EJHG · 2015Article
- Article
- Development and assessment of an optimized next-generation DNA sequencing approach for the mtgenome using the Illumina MiSeq.Forensic science international. Genetics · 2014Article
- HIF1α modulates cell fate reprogramming through early glycolytic shift and upregulation of PDK1-3 and PKM2.Stem cells (Dayton, Ohio) · 2014Article
- Tissue-specific mitochondrial heteroplasmy at position 16,093 within the same individual.Current genetics · 2014Article
- From cheek swabs to consensus sequences: an A to Z protocol for high-throughput DNA sequencing of complete human mitochondrial genomes.BMC genomics · 2014Article
- The identification of mitochondrial DNA variants in glioblastoma multiforme.Acta neuropathologica communications · 2014Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
Abstract
Mutations in mitochondrial DNA (mtDNA) may cause maternally-inherited cardiomyopathy and heart failure. In homoplasmy all mtDNA copies contain the mutation. In heteroplasmy there is a mixture of normal and mutant copies of mtDNA. The clinical phenotype of an affected individual depends on the type of genetic defect and the ratios of mutant and normal mtDNA in affected tissues. We aimed at determining the sensitivity of next-generation sequencing compared to Sanger sequencing for mutation detection in patients with mitochondrial cardiomyopathy. We studied 18 patients with mitochondrial cardiomyopathy and two with suspected mitochondrial disease. We "shotgun" sequenced PCR-amplified mtDNA and multiplexed using a single run on Roche's 454 Genome Sequencer. By mapping to the reference sequence, we obtained 1,300x average coverage per case and identified high-confidence variants. By comparing these to >400 mtDNA substitution variants detected by Sanger, we found 98% concordance in variant detection. Simulation studies showed that >95% of the homoplasmic variants were detected at a minimum sequence coverage of 20x while heteroplasmic variants required >200x coverage. Several Sanger "misses" were detected by 454 sequencing. These included the novel heteroplasmic 7501T>C in tRNA serine 1 in a patient with sudden cardiac death. These results support a potential role of next-generation sequencing in the discovery of novel mtDNA variants with heteroplasmy below the level reliably detected with Sanger sequencing. We hope that this will assist in the identification of mtDNA mutations and key genetic determinants for cardiomyopathy and mitochondrial disease.
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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.