ArticleAmerican journal of human genetics2002
The fingerprint of phantom mutations in mitochondrial DNA data.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 80 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
80 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Molecular oncology focus - is carcinogenesis a 'mitochondriopathy'?Journal of biomedical science · 2010Pooled it
- Geographic Patterns of Intra- and Interspecific Diversity of Riverine Fish Species in the Italian Northern Apennines and Ligurian Alps.Ecology and evolution · 2026Article
- Analysis of Selective Pressure on Ancient Human Mitochondrial Genomes Reveals the Presence of Widespread Sequencing Artefacts.International journal of molecular sciences · 2025Article
- Mitochondrial haplogroup A2 is associated with increased COVID-19 mortality in an admixed Brazilian population.Scientific reports · 2025Article
- New Canary Islands Roman mediated settlement hypothesis deduced from coalescence ages of curated maternal indigenous lineages.Scientific reports · 2024Article
- Genetic Analysis of Mingrelians Reveals Long-Term Continuity of Populations in Western Georgia (Caucasus).Genome biology and evolution · 2023Article
- Article
- Early detection and improved genomic surveillance of SARS-CoV-2 variants from deep sequencing data.iScience · 2022Article
- Contrasting maternal and paternal genetic histories among five ethnic groups from Khyber Pakhtunkhwa, Pakistan.Scientific reports · 2022Article
- Mitochondrial DNA in forensic use.Emerging topics in life sciences · 2021Article
- VERSO: A comprehensive framework for the inference of robust phylogenies and the quantification of intra-host genomic diversity of viral samples.Patterns (New York, N.Y.) · 2021Article
- Mitochondrial DNA control region variation in an Iraqi population sample.International journal of legal medicine · 2021Article
- Mutational signatures and heterogeneous host response revealed via large-scale characterization of SARS-CoV-2 genomic diversity.iScience · 2021Article
- Article
- Phylogenetic and population-based approaches to mitogenome variation do not support association with male infertility.Journal of human genetics · 2017Article
- HaploGrep 2: mitochondrial haplogroup classification in the era of high-throughput sequencing.Nucleic acids research · 2016Article
- Mitochondrial DNA mutations in single human blood cells.Mutation research · 2015Review
- Mitochondrial DNA heteroplasmy in the emerging field of massively parallel sequencing.Forensic science international. Genetics · 2015Review
- Fine Dissection of Human Mitochondrial DNA Haplogroup HV Lineages Reveals Paleolithic Signatures from European Glacial Refugia.PloS one · 2015Article
- A South American Prehistoric Mitogenome: Context, Continuity, and the Origin of Haplogroup C1d.PloS one · 2015Article
20 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
Phantom mutations are systematic artifacts generated in the course of the sequencing process itself. In sequenced mitochondrial DNA (mtDNA), they generate a hotspot pattern quite different from that of natural mutations in the cell. To identify the telltale patterns of a particular phantom mutation process, one first filters out the well-established frequent mutations (inferred from various data sets with additional coding region information). The filtered data are represented by their full (quasi-)median network, to visualize the character conflicts, which can be expressed numerically by the cube spectrum. Permutation tests are used to evaluate the overall phylogenetic content of the filtered data. Comparison with benchmark data sets helps to sort out suspicious data and to infer features and potential causes for the phantom mutation process. This approach, performed either in the lab or at the desk of a reviewer, will help to avoid errors that otherwise would go into print and could lead to erroneous evolutionary interpretations. The filtering procedure is illustrated with two mtDNA data sets that were severely affected by phantom mutations.
Indexed as
Identifiers
What 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.