ArticleHuman genetics2016
A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest.
Article in Human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04750330 (Mitochondrial DNA and Nuclear SNPs to Predict Severity of COVID-19 Infection), which is not on this map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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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.
Mitochondrial DNA and Nuclear SNPs to Predict Severity of COVID-19 Infection
Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Comprehensive summary of mitochondrial DNA alterations in the postmortem human brain: A systematic review.EBioMedicine · 2022Pooled it
- Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience.American journal of human genetics · 2025Article
- Advancing Deep Variant Phenotyping of Mitochondrial Enzyme Complexes For Precision Medicine in Allogeneic Hematopoietic Stem-Cell Transplantation.Transplantation reports · 2025Article
- Pathogenic mitochondrial DNA variants are associated with response to anti-VEGF therapy in ovarian cancer PDX models.Journal of experimental & clinical cancer research : CR · 2024Article
- MicroRNA and Metabolic Profiling of a Primary Ovarian Neuroendocrine Carcinoma Pulmonary-Type Reveals a High Degree of Similarity with Small Cell Lung Cancer.Non-coding RNA · 2022Article
- Article
- Mitochondrial DNA analysis efficiently contributes to the identification of metastatic contralateral breast cancers.Journal of cancer research and clinical oncology · 2021Article
- Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.Human mutation · 2020Article
- A data and text mining pipeline to annotate human mitochondrial variants with functional and clinical information.Molecular genetics & genomic medicine · 2020Article
- Article
- HmtVar: a new resource for human mitochondrial variations and pathogenicity data.Nucleic acids research · 2019Article
- Mitochondrial gene sequence variants in children with severe malaria anaemia with or without lactic acidosis: a case control study.Malaria journal · 2018Article
- Potential for Mitochondrial DNA Sequencing in the Differential Diagnosis of Gynaecological Malignancies.International journal of molecular sciences · 2018Review
- Mitochondrial Haplogroups Modify the Effect of Diabetes Duration and HbA1c on Proliferative Diabetic Retinopathy Risk in Patients With Type 2 Diabetes.Investigative ophthalmology & visual science · 2017Article
- Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.Oncotarget · 2017Article
- Packaging and transfer of mitochondrial DNA via exosomes regulate escape from dormancy in hormonal therapy-resistant breast cancer.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- SG-ADVISER mtDNA: a web server for mitochondrial DNA annotation with data from 200 samples of a healthy aging cohort.BMC bioinformatics · 2017Article
- High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE.PLoS computational biology · 2017Article
- Mitochondrial DNA sequencing demonstrates clonality of peritoneal implants of borderline ovarian tumors.Molecular cancer · 2017Article
- HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor.Nucleic acids research · 2017Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Assigning a pathogenic role to mitochondrial DNA (mtDNA) variants and unveiling the potential involvement of the mitochondrial genome in diseases are challenging tasks in human medicine. Assuming that rare variants are more likely to be damaging, we designed a phylogeny-based prioritization workflow to obtain a reliable pool of candidate variants for further investigations. The prioritization workflow relies on an exhaustive functional annotation through the mtDNA extraction pipeline MToolBox and includes Macro Haplogroup Consensus Sequences to filter out fixed evolutionary variants and report rare or private variants, the nucleotide variability as reported in HmtDB and the disease score based on several predictors of pathogenicity for non-synonymous variants. Cutoffs for both the disease score as well as for the nucleotide variability index were established with the aim to discriminate sequence variants contributing to defective phenotypes. The workflow was validated on mitochondrial sequences from Leber's Hereditary Optic Neuropathy affected individuals, successfully identifying 23 variants including the majority of the known causative ones. The application of the prioritization workflow to cancer datasets allowed to trim down the number of candidate for subsequent functional analyses, unveiling among these a high percentage of somatic variants. Prioritization criteria were implemented in both standalone ( http://sourceforge.net/projects/mtoolbox/ ) and web version ( https://mseqdr.org/mtoolbox.php ) of MToolBox.
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