ArticleBMC genomics2014
Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data.
Article in BMC genomics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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
39 citing papers in PubMed, 72 citations in OpenAlex.
- CBIcall: a configuration-driven framework for variant calling in large sequencing cohorts.Bioinformatics advances · 2026Article
- Article
- Mitochondrial DNA alterations in precision oncology: Emerging roles in diagnostics and therapeutics.Clinics (Sao Paulo, Brazil) · 2025Review
- Nucleic acid degradation after long-term dried blood spot storage.Molecular ecology resources · 2024Article
- The evidential value of dental calculus in the identification process.Scientific reports · 2023Article
- ONT long-read WGS for variant discovery and orthogonal confirmation of short read WGS derived genetic variants in clinical genetic testing.Frontiers in genetics · 2023Article
- South Asian maternal and paternal lineages in southern Thailand and the role of sex-biased admixture.PloS one · 2023Article
- Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders.Current issues in molecular biology · 2022Review
- Comparison of mitochondrial DNA sequences from whole blood and lymphoblastoid cell lines.Scientific reports · 2022Article
- Applying genomic and transcriptomic advances to mitochondrial medicine.Nature reviews. Neurology · 2021Review
- New Insights Into Mitochondrial DNA Reconstruction and Variant Detection in Ancient Samples.Frontiers in genetics · 2021Article
- Delineation of Mitochondrial DNA Variants From Exome Sequencing Data and Association of Haplogroups With Obesity in Kuwait.Frontiers in genetics · 2021Article
- A Novel Approach for the Identification of Pharmacogenetic Variants inJournal of clinical medicine · 2020Article
- Article
- Article
- Article
- Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method.Molecular genetics & genomic medicine · 2018Article
- Methodology for Y Chromosome Capture: A complete genome sequence of Y chromosome using flow cytometry, laser microdissection and magnetic streptavidin-beads.Scientific reports · 2018Article
- Mitochondrial genome variation of Atlantic cod.BMC research notes · 2018Article
- MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion.Human mutation · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWhole Exome Sequencing (WES) is one of the most used and cost-effective next generation technologies that allows sequencing of all nuclear exons. Off-target regions may be captured if they present high sequence similarity with baits. Bioinformatics tools have been optimized to retrieve a large amount of WES off-target mitochondrial DNA (mtDNA), by exploiting the aspecificity of probes, partially overlapping to Nuclear mitochondrial Sequences (NumtS). The 1000 Genomes project represents one of the widest resources to extract mtDNA sequences from WES data, considering the large effort the scientific community is undertaking to reconstruct human population history using mtDNA as marker, and the involvement of mtDNA in pathology.
resultsA previously published pipeline aimed at assembling mitochondrial genomes from off-target WES reads and further improved to detect insertions and deletions (indels) and heteroplasmy in a dataset of 1242 samples from the 1000 Genomes project, enabled to obtain a nearly complete mitochondrial genome from 943 samples (76% analyzed exomes). The robustness of our computational strategy was highlighted by the reduction of reads amount recognized as mitochondrial in the original annotation produced by the Consortium, due to NumtS filtering.
conclusionsTo the best of our knowledge, this is likely the most extended population-scale mitochondrial genotyping in humans enriched with the estimation of heteroplasmies.
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.