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References from “NanoDel”: identification of large-scale mitochondrial DNA deletions using long-read sequencing. Local targets link to admitted publications; unresolved targets remain external evidence.
Accurate structure prediction of biomolecular interactions with AlphaFold3
10.1038/s41586-024-07487-w · 2024 · External reference
Is cumulative frequency of mitochondrial DNA variants a biomarker for colorectal tumor progression?
10.1186/1476-4598-3-30 · 2004 · External reference
Oxidative events in a double helix system promote the formation of kinetically trapped g-quadruplexes
10.1093/nar/gkaf260 · 2025 · External reference
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
10.1038/13779 · 1999 · External reference
Bioinformatics tools for NGS-based identification of single nucleotide variants and large-scale rearrangements in mitochondrial DNA
10.3390/biotech14010009 · 2025 · External reference
Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing
10.1371/journal.pgen.1009242 · 2020 · External reference
The Protein Data Bank
10.1093/nar/28.1.235 · 2000 · External reference
Visor: a versatile haplotype-aware structural variant simulator for short- and long-read sequencing
10.1093/bioinformatics/btz719 · 2020 · External reference
Detection and quantification of mitochondrial DNA deletions from next-generation sequence data
10.1186/s12859-017-1821-7 · 2017 · External reference
The generation of mitochondrial DNA large-scale deletions in human cells
10.1038/jhg.2011.97 · 2011 · External reference
Nanopack: visualizing and processing long-read sequencing data
10.1093/bioinformatics/bty149 · 2018 · External reference
Characterization of G4 DNA formation in mitochondrial DNA and their potential role in mitochondrial genome instability
10.1111/febs.16113 · 2022 · External reference
MitoBreak: the mitochondrial DNA breakpoints database
10.1093/nar/gkt982 · 2014 · External reference
Mtdna analysis using Mitopore
10.1016/j.omtm.2024.101231 · 2024 · External reference
Analysis of mitochondrial genome revealed a rare 50 Bp deletion and substitutions in a family with hypertension
10.1016/j.mito.2011.07.002 · 2011 · External reference
Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions
10.3389/fgene.2023.1089956 · 2023 · External reference
Impact of microbiological molecular methodologies on adaptive sampling using nanopore sequencing in metagenomic studies
10.1186/s40793-025-00704-7 · 2025 · External reference
Splice-break: exploiting an RNA-Seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders
10.1093/nar/gkz164 · 2019 · External reference
G-quadruplexes in promoters throughout the human genome
10.1093/nar/gkl1057 · 2007 · External reference
Directly repeated sequences associated with pathogenic mitochondrial DNA deletions
10.1073/pnas.86.20.8059 · 1989 · External reference
Integrated approach reveals role of mitochondrial germ-line mutation F18L in respiratory chain, oxidative alterations, drug sensitivity, and patient prognosis in glioblastoma
10.3390/ijms20133364 · 2019 · External reference
QGRS mapper: a web-based server for predicting G-quadruplexes in nucleotide sequences
10.1093/nar/gkl253 · 2006 · External reference
Preferential amplification is minimised in long-PCR systems
10.1016/s0027-5107(00)00126-33 · 2000 · External reference
Use of ranks in one-criterion variance analysis
10.1080/01621459.1952.10483441 · 1952 · External reference
Mitochondrial DNA sequence variation and risk of pancreatic cancer
10.1158/0008-5472.can-11-1682 · 2012 · External reference
Minimap2: pairwise alignment for nucleotide sequences
10.1093/bioinformatics/bty191 · 2018 · External reference
Next generation sequencing and comparative analyses of xenopus mitogenomes
10.1186/1471-2164-13-496 · 2012 · External reference
Identification and functional prediction of mitochondrial complex III and IV mutations associated with glioblastoma
10.1093/neuonc/nov020 · 2015 · External reference
Nanopore adaptive sampling: a tool for enrichment of low abundance species in metagenomic samples
10.1186/s13059-021-02582-x · 2022 · External reference
MMEJ repair of double-strand breaks (director’s cut): deleted sequences and alternative endings
10.1016/j.tig.2008.08.007 · 2008 · External reference
Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA
10.1093/nar/18.3.561 · 1990 · External reference
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
10.1056/nejm198905183202001 · 1989 · External reference
Human telomeric G-quadruplex: structures of DNA and RNA sequences
10.1111/j.1742-4658.2009.07464.x · 2010 · External reference
Single-molecule analysis of MtDNA replication uncovers the basis of the common deletion
10.1016/j.molcel.2016.12.014 · 2017 · External reference
Mitochondrial DNA, diabetes and pancreatic pathology in Kearns-Sayre syndrome
10.1007/s001250050366 · 1995 · External reference
Tandem direct duplications of mitochondrial DNA in mitochondrial myopathy: analysis of nucleotide sequence and tissue distribution
10.1093/nar/17.24.10223 · 1989 · External reference
Families of MtDNA re-arrangements can Be detected in patients with MtDNA deletions: duplications may be a transient intermediate form
10.1093/hmg/2.1.23 · 1993 · External reference
Survey and summary G-quadruplexes and their regulatory roles in biology
10.1093/nar/gkv862 · 2015 · External reference
Unresolved reference
1996 · External reference
A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA
10.1126/science.2711184 · 1989 · External reference
Secondary structure of the human mitochondrial genome affects formation of deletions
10.1186/s12915-023-01606-1 · 2023 · External reference
An analysis of variance test for normality (complete samples)
10.2307/2333709 · 1965 · External reference
Detection of mosaic and population-level structural variants with Sniffles2
10.1038/s41587-023-02024-y · 2024 · External reference
Microhomology-mediated end joining is the principal mediator of double-strand break repair during mitochondrial DNA lesions
10.1091/mbc.e15-05-0260 · 2016 · External reference
10.1038/nature11707
10.1038/nature11707 · 2012 · External reference
Nanopore sequencing identifies a higher frequency and expanded spectrum of mitochondrial DNA deletion mutations in human aging
10.1111/acel.13842 · 2023 · External reference
Unresolved reference
2019 · External reference
Prevalence of mitochondrial DNA common deletion in patients with gliomas and meningiomas: a first report from a Malaysian study group
10.1097/jcma.0000000000000401 · 2020 · External reference
Comprehensive one-step molecular analyses of mitochondrial genome by massively parallel sequencing
10.1373/clinchem.2011.181438 · 2012 · External reference
