Article

NanoDel: Identification of large-scale mitochondrial DNA deletions using long-read sequencing

2025-09-21

Abstract excerpt

<h4>Motivation</h4> Traditional methods for detecting large-scale mitochondrial DNA (mtDNA) deletions (LSMDs) in cells present challenges, i.e. a priori information, high DNA inputs, poor sensitivity and are not always quantitative. Mitigation can be achieved through high throughput DNA sequencing using e.g. Illumina and Oxford Nanopore Technologies (ONT), in combination with LSMD breakpoint identification and q...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 9bdb957c-6726-596b-9cbc-8ea0cf324a99
DOI: 10.1101/2025.09.19.677263

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

NanoDel: Identification of large-scale mitochondrial DNA deletions using long-read sequencingDOI 10.1101/2025.09.19.677263Read

Nanomito enables amplification-free full-length analysis of mitochondrial DNA variants and deletionsSemantic proximity Read

Clinical long-read sequencing of the human mitochondrial genome for mitochondrial disease diagnosticsSemantic proximity Read

Long-read MitoScope reveals tissue-resolved somatic mitochondrial variation and landscape of nuclear-embedded mitochondrial sequencesSemantic proximity Read

Nanopore sequencing identifies a higher frequency and expanded spectrum of mitochondrial DNA deletion mutations in human agingSemantic proximity Read

MitoDelta: identifying mitochondrial DNA deletions at cell-type resolution from single-cell RNA sequencing dataSemantic proximity Read

Novel method for multiplexed full-length single-molecule sequencing of the human mitochondrial genomeSemantic proximity Read

Accurate and comprehensive analysis of single nucleotide variants and large deletions of the human mitochondrial genome in DNA and single cells.Semantic proximity Read

A bioinformatics pipeline for identifying homoplasmic and heteroplasmic mitochondrial DNA SNVs in single-cell RNA-Seq datasets.Semantic proximity Read

Long read mitochondrial genome sequencing using Cas9-guided adaptor ligationSemantic proximity Read

A Bioinformatics Pipeline for Estimating Mitochondria DNA Copy Number and Heteroplasmy Levels from Whole Genome Sequencing DataSemantic proximity Read

mtDNApipe: A Pioneering Pipeline for High-Sensitivity Detection of Low-Frequency Mitochondrial DNA Mutations.Semantic proximity Read

Advancing mitochondrial DNA analysis: Utility of PacBio long-read sequencing technology in accurate and precise mtDNA SNV and CNV variant detectionSemantic proximity Read