ArticleNAR genomics and bioinformatics2020
Unraveling heteroplasmy patterns with NOVOPlasty.
Article in NAR genomics and bioinformatics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 69 citations in OpenAlex.
- Shifting the Balance: Mitochondrial Heteroplasmy as a Driver of Cardiac Disease.Circulation research · 2026Review
- Plastome evolution in annual Brachypodium species reveals widespread heteroplasmy and chloroplast capture, lineage-specific codon usage bias, and low positive selection.BMC plant biology · 2026Article
- Complete chloroplast genome ofFrontiers in plant science · 2026Article
- Article
- Variation of and associations with the depth and evenness of sequencing coverage in archived plastid genomes.Scientific reports · 2025Article
- Variation of and associations with the depth and evenness of sequencing coverage in archived plastid genomes.Research square · 2025Article
- Mitogenome characterization and phylogeny of Neohydatothrips gracilipes (Thripidae: Sericothripinae).Scientific reports · 2025Article
- Characterization of Complete Mitochondrial Genome of Badri Breed of Bos indicus (Bovidae: Bovinae): Selection Pressure and Comparative Analysis.Biochemical genetics · 2025Article
- Comparative maxicircle analysis in Trypanosoma species from the LSRM clade highlights patterns in an underexplored lineage.PloS one · 2025Article
- Characterization and trans-generation dynamics of mitogene pool in the silver carp (Hypophthalmichthys molitrix).G3 (Bethesda, Md.) · 2024Article
- A Mysterious Asian Firefly Genus,Insects · 2024Article
- Twelve newly assembled jasmine chloroplast genomes: unveiling genomic diversity, phylogenetic relationships and evolutionary patterns among Oleaceae and Jasminum species.BMC plant biology · 2024Article
- Complete mitochondrial genome of the worm snailMitochondrial DNA. Part B, Resources · 2024Article
- The complete chloroplast genome sequence ofMitochondrial DNA. Part B, Resources · 2024Article
- Extensive mitogenomic heteroplasmy and its implications in the phylogeny of the fish genus3 Biotech · 2023Article
- Multichromosomal Mitochondrial Genome ofInternational journal of molecular sciences · 2023Article
- Organellar phylogenomics of Ophioglossaceae fern genera.Frontiers in plant science · 2023Article
- Parental genomes segregate into distinct blastomeres during multipolar zygotic divisions leading to mixoploid and chimeric blastocysts.Genome biology · 2022Article
- A Chromosome-Length Reference Genome for the Endangered Pacific Pocket Mouse Reveals Recent Inbreeding in a Historically Large Population.Genome biology and evolution · 2022Article
- Exploring Mitogenomes Diversity ofMicroorganisms · 2022Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Heteroplasmy, the existence of multiple mitochondrial haplotypes within an individual, has been studied across different scientific fields. Mitochondrial genome polymorphisms have been linked to multiple severe disorders and are of interest to evolutionary studies and forensic science. Before the development of massive parallel sequencing (MPS), most studies of mitochondrial genome variation were limited to short fragments and to heteroplasmic variants associated with a relatively high frequency (>10%). By utilizing ultra-deep sequencing, it has now become possible to uncover previously undiscovered patterns of intra-individual polymorphisms. Despite these technological advances, it is still challenging to determine the origin of the observed intra-individual polymorphisms. We therefore developed a new method that not only detects intra-individual polymorphisms within mitochondrial and chloroplast genomes more accurately, but also looks for linkage among polymorphic sites by assembling the sequence around each detected polymorphic site. Our benchmark study shows that this method is capable of detecting heteroplasmy more accurately than any method previously available and is the first tool that is able to completely or partially reconstruct the sequence for each mitochondrial haplotype (allele). The method is implemented in our open source software NOVOPlasty that can be downloaded at https://github.com/ndierckx/NOVOPlasty.
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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.