ArticleDiscovery medicine2012
Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome.
Article in Discovery medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
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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
39 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Systematic review of Leber's hereditary optic neuropathy - Clinical diagnosis, genetics overview and current concepts of treatment.Indian journal of ophthalmology · 2026Pooled it
- Advances in diagnosis of mitochondrial dysfunction and primary mitochondrial disease.Disease models & mechanisms · 2026Review
- Augmenting cost-effectiveness in clinical diagnosis using extended whole-exome sequencing: SNVs, SVs, and beyond.Journal of human genetics · 2026Article
- Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.HGG advances · 2025Article
- Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.Frontiers in genetics · 2025Article
- Applications of genome sequencing as a single platform for clinical constitutional genetic testing.Genetics in medicine open · 2024Review
- Mitochondrial DNA Variants at Low-Level Heteroplasmy and Decreased Copy Numbers in Chronic Kidney Disease (CKD) Tissues with Kidney Cancer.International journal of molecular sciences · 2023Article
- Article
- Mitochondrial DNA Sequencing and Heteroplasmy Quantification by Next Generation Sequencing.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Investigation of Mitochondrial Related Variants in a Cerebral Small Vessel Disease Cohort.Molecular neurobiology · 2022Article
- Whole exome sequencing is an alternative method in the diagnosis of mitochondrial DNA diseases.Molecular genetics & genomic medicine · 2022Article
- m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome.Cold Spring Harbor molecular case studies · 2022Article
- Review
- Genome-scale target capture of mitochondrial and nuclear environmental DNA from water samples.Molecular ecology resources · 2021Article
- MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations.Nucleic acids research · 2021Article
- Investigating the influence of mtDNA and nuclear encoded mitochondrial variants on high intensity interval training outcomes.Scientific reports · 2020Article
- The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Detection of mitochondrial DNA variants at low level heteroplasmy in pediatric CNS and extra-CNS solid tumors with three different enrichment methods.Mitochondrion · 2020Article
- miR-520d-5p can reduce the mutations in hepatoma cancer cells and iPSCs-derivatives.BMC cancer · 2019Article
- A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.Cold Spring Harbor molecular case studies · 2019Article
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
Discovering causative genetic variants in individual cases of suspected mitochondrial disease requires interrogation of both the mitochondrial (mtDNA) and nuclear genomes. Whole-exome sequencing can support simultaneous dual-genome analysis, although currently available capture kits do not target the mtDNA genome and provide insufficient capture for some nuclear-encoded mitochondrial genes. To optimize interrogation of nuclear and mtDNA genes relevant to mitochondrial biology and disease, a custom SureSelect "Mito-Plus" whole-exome library was formulated by blending RNA "baits" from three separate designs: (A) Agilent Technologies SureSelectXT 50 Mb All Exon PLUS Targeted Enrichment Kit, (B) 16-gene nuclear panel targeting sequences for known MitoCarta proteins not included in the 50 Mb All Exon design, and (C) sequences targeting the entire mtDNA genome. The final custom formulations consisted of a 1:1 ratio of nuclear baits to which a 1 to 1,000-fold diluted ratio of mtDNA genome baits were blended. Patient sample capture libraries were paired-end sequenced on an Illumina HiSeq 2000 system using v3.0 SBS chemistry. mtDNA genome coverage varied depending on the mtDNA:nuclear blend ratio, where a 1:100 ratio provided optimal dual-genome coverage with 10X coverage for over 97.5% of all targeted nuclear regions and 1,000X coverage for 99.8% of the mtDNA genome. mtDNA mutations were reliably detected to at least an 8% heteroplasmy level, as discriminated both from sequencing errors and potential contamination from nuclear mtDNA transcripts (Numts). The "1:100 Mito-Plus Whole-Exome" Agilent capture kit offers an optimized tool for whole-exome analysis of nuclear and mtDNA genes relevant to the diagnostic evaluation of mitochondrial disease.
Indexed as
Identifiers
23272691PMC3923327What OpenQuestion holds
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.