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Next-generation Sequencing

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.

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Updated: Jun 23, 2026

Methodology for Accurate Detection of Mitochondrial DNA Methylation

Methodology for Accurate Detection of Mitochondrial DNA Methylation

Published on: May 20, 2018

Targeted nanopore sequencing using the Flongle device to identify mitochondrial DNA variants.

Shintaro Akamatsu¹, Satomi Mitsuhashi², Kaima Soga¹

¹Department of Neurology, St. Marianna University School of Medicine, Kawasaki, 2168511, Japan.

Scientific Reports

|October 25, 2024

Summary

Long-read sequencing using the affordable Flongle flow cell offers a simplified and accessible method for comprehensive mitochondrial DNA (mtDNA) sequencing, aiding in the diagnosis of mitochondrial diseases.

Keywords:

Long-read DNA sequencing Mitochondrial disease Targeted sequencing

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Methodology for Accurate Detection of Mitochondrial DNA Methylation

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Published on: May 20, 2018

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

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Published on: May 5, 2023

Area of Science:

Genomics
Molecular Biology
Neurology

Background:

Mitochondrial genome (mtDNA) variants are linked to neurological disorders like MELAS.
The 16 kb mtDNA is suitable for continuous sequencing via long-read sequencing (LRS).
Current mtDNA sequencing methods can be complex and costly.

Purpose of the Study:

To demonstrate a simple, accessible method for comprehensive mtDNA sequencing using Flongle.
To evaluate Flongle-based sequencing for diagnosing mitochondrial diseases.
To identify potential mtDNA variants associated with Parkinson's disease (PD).

Main Methods:

Whole mtDNA amplification (WMA) followed by LRS on Flongle.
Comparison of Flongle results with Cas9 enrichment methods.
Assessment of heteroplasmy rate accuracy using equimolar variants.
Sequencing of mtDNA from PD patients.

Main Results:

mtDNA variants were detected in all tested mitochondrial disease patients.
Flongle sequencing results were comparable to Cas9 enrichment.
Accurate heteroplasmy level detection (r² > 0.99) was achieved with WMA on Flongle.
A known variant was found in three PD patients.

Conclusions:

Flongle provides a streamlined and cost-effective approach for mtDNA sequencing.
This method simplifies the diagnosis of mitochondrial diseases.
Flongle-based sequencing shows potential for identifying disease-associated mtDNA variants.