ArticleEuropean journal of human genetics : EJHG2017
Accurate and comprehensive analysis of single nucleotide variants and large deletions of the human mitochondrial genome in DNA and single cells.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 19 citations in OpenAlex.
- The interplay between mitochondrial DNA genotypes, female infertility, ovarian response, and mutagenesis in oocytes.Human reproduction open · 2025Article
- Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweight.Nature communications · 2024Article
- A complete workflow for single cell mtDNAseq in CHO cells, from cell culture to bioinformatic analysis.Frontiers in bioengineering and biotechnology · 2024Article
- CHCHD10 mutations induce tissue-specific mitochondrial DNA deletions with a distinct signature.Human molecular genetics · 2023Article
- Mitochondrial DNA variants segregate during human preimplantation development into genetically different cell lineages that are maintained postnatally.Human molecular genetics · 2022Article
- Article
- Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing.PLoS genetics · 2020Article
- DNA typing from skeletal remains: a comparison between capillary electrophoresis and massively parallel sequencing platforms.International journal of legal medicine · 2020Article
- Unraveling heteroplasmy patterns with NOVOPlasty.NAR genomics and bioinformatics · 2020Article
- Detection of Heteroplasmic Variants in the Mitochondrial Genome through Massive Parallel Sequencing.Bio-protocol · 2019Article
- Splice-Break: exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders.Nucleic acids research · 2019Article
- Random Mutagenesis, Clonal Events, and Embryonic or Somatic Origin Determine the mtDNA Variant Type and Load in Human Pluripotent Stem Cells.Stem cell reports · 2018Article
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
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Abstract
Massive parallel sequencing (MPS) can accurately quantify mitochondrial DNA (mtDNA) single nucleotide variants (SNVs), but no MPS methods are currently validated to simultaneously and accurately establish the breakpoints and frequency of large deletions at low heteroplasmic loads. Here we present the thorough validation of an MPS protocol to quantify the load of very low frequency, large mtDNA deletions in bulk DNA and single cells, along with SNV calling by standard methods. We used a set of well-characterized DNA samples, DNA mixes and single cells to thoroughly control the study. We developed a custom script for the detection of mtDNA rearrangements that proved to be more accurate in detecting and quantifying deletions than pre-existing tools. We also show that PCR conditions and primersets must be carefully chosen to avoid biases in the retrieved variants and an increase in background noise, and established a lower detection limit of 0.5% heteroplasmic load for large deletions, and 1.5 and 2% for SNVs, for bulk DNA and single cells, respectively. Finally, the analysis of different single cells provided novel insights into mtDNA cellular mosaicism.
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