ArticleBioinformatics (Oxford, England)2013
MitoSeek: extracting mitochondria information and performing high-throughput mitochondria sequencing analysis.
Article in Bioinformatics (Oxford, England), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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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
54 citing papers in PubMed.
- Sequencing and characterizing human mitochondrial genomes in the biobank-based genomic research paradigm.Science China. Life sciences · 2025Review
- The multifaceted role of mitochondria in cardiac function: insights and approaches.Cell communication and signaling : CCS · 2024Review
- Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders.Neurology. Genetics · 2023Article
- Targeted parallel DNA sequencing detects circulating tumor-associated variants of the mitochondrial and nuclear genomes in patients with neuroblastoma.Cancer reports (Hoboken, N.J.) · 2023Article
- Benchmarking the Effectiveness and Accuracy of Multiple Mitochondrial DNA Variant Callers: Practical Implications for Clinical Application.Frontiers in genetics · 2022Article
- From Forensics to Clinical Research: Expanding the Variant Calling Pipeline for the Precision ID mtDNA Whole Genome Panel.International journal of molecular sciences · 2021Article
- Mitochondrial DNA variation and cancer.Nature reviews. Cancer · 2021Review
- Mitochondrial DNA copy number in human disease: the more the better?FEBS letters · 2021Review
- New Insights Into Mitochondrial DNA Reconstruction and Variant Detection in Ancient Samples.Frontiers in genetics · 2021Article
- Article
- Unraveling heteroplasmy patterns with NOVOPlasty.NAR genomics and bioinformatics · 2020Article
- Somatic mitochondrial mutation discovery using ultra-deep sequencing of the mitochondrial genome reveals spatial tumor heterogeneity in head and neck squamous cell carcinoma.Cancer letters · 2020Article
- "Mitochondrial Toolbox" - A Review of Online Resources to Explore Mitochondrial Genomics.Frontiers in genetics · 2020Review
- Splice-Break: exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders.Nucleic acids research · 2019Article
- eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Article
- Detection of Innate and Artificial Mitochondrial DNA Heteroplasmy by Massively Parallel Sequencing: Considerations for Analysis.Journal of Korean medical science · 2018Article
- Power and sample size calculations for high-throughput sequencing-based experiments.Briefings in bioinformatics · 2018Article
- Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method.Molecular genetics & genomic medicine · 2018Article
- Mitochondrial transcription factor A (TFAM) shapes metabolic and invasion gene signatures in melanoma.Scientific reports · 2018Article
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
motivationExome capture kits have capture efficiencies that range from 40 to 60%. A significant amount of off-target reads are from the mitochondrial genome. These unintentionally sequenced mitochondrial reads provide unique opportunities to study the mitochondria genome.
resultsMitoSeek is an open-source software tool that can reliably and easily extract mitochondrial genome information from exome and whole genome sequencing data. MitoSeek evaluates mitochondrial genome alignment quality, estimates relative mitochondrial copy numbers and detects heteroplasmy, somatic mutation and structural variants of the mitochondrial genome. MitoSeek can be set up to run in parallel or serial on large exome sequencing datasets. AVAILABILITY: https://github.com/riverlee/MitoSeek
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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.