ArticleInternational journal of legal medicine2008
Consistent treatment of length variants in the human mtDNA control region: a reappraisal.
Article in International journal of legal medicine, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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Who cites it
55 citing papers in PubMed.
- Review
- Persistence of Ancestral KhoeSan Mitochondrial Patterns in Contemporary South African Populations.Annals of human genetics · 2025Article
- mitoLEAF: mitochondrial DNA Lineage, Evolution, Annotation Framework.NAR genomics and bioinformatics · 2025Article
- Kaspar Hauser's alleged noble origin - New molecular genetic analyses resolve the controversy.iScience · 2024Article
- From Deutsche Zeitschrift to International journal of legal medicine-100 years of legal medicine through the lens of journal articles, Part 4: International journal of legal medicine from 1990 to 2022.International journal of legal medicine · 2024Article
- The Analysis of Genetic Polymorphism on Mitochondrial Hypervariable Region III in Thai Population.Genes · 2023Article
- Fine-Tuning Phylogenetic Alignment and Haplogrouping of mtDNA Sequences.International journal of molecular sciences · 2021Article
- Evidence for multi-copy Mega-NUMTs in the human genome.Nucleic acids research · 2021Article
- Article
- Complete mitogenome data for the Serbian population: the contribution to high-quality forensic databases.International journal of legal medicine · 2020Article
- Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Genes flow by the channels of culture: the genetic imprint of matrilocality in Ngazidja, Comoros Islands.European journal of human genetics : EJHG · 2018Article
- Article
- Article
- Length heterogeneity at conserved sequence block 2 in human mitochondrial DNA acts as a rheostat for RNA polymerase POLRMT activity.Nucleic acids research · 2016Article
- Simultaneous Whole Mitochondrial Genome Sequencing with Short Overlapping Amplicons Suitable for Degraded DNA Using the Ion Torrent Personal Genome Machine.Human mutation · 2015Article
- Length heteroplasmy of the polyC-polyT-polyC stretch in the dog mtDNA control region.International journal of legal medicine · 2015Article
- Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier.Bioinformatics (Oxford, England) · 2015Article
- Human settlement history between Sunda and Sahul: a focus on East Timor (Timor-Leste) and the Pleistocenic mtDNA diversity.BMC genomics · 2015Article
- Admixture and genetic diversity distribution patterns of non-recombining lineages of Native American ancestry in Colombian populations.PloS one · 2015Article
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In forensic science, as well as in molecular anthropology and medical genetics, human mitochondrial DNA (mtDNA) variation is being recorded by aligning mtDNA sequences to the revised Cambridge reference sequence (rCRS). This task is straightforward for the vast majority of nucleotide positions but appears to be difficult for some short sequence stretches, namely, in regions displaying length variation. Earlier guidelines for imposing a unique alignment relied on binary alignment to a standard sequence (the rCRS) and used additional priority rules for resolving ambiguities. It turns out, however, that these rules have not been applied rigorously and led to inconsistent nomenclature. There is no way to adapt the priority rules in a reasonable way because binary alignment to a standard sequence is bound to produce artificial alignments that may place sequences separated by a single mutation at mismatch distance larger than 1. To remedy the situation, we propose a phylogenetic approach for multiple alignment and resulting notation.
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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.