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Sequencing of mRNA from Whole Blood using Nanopore Sequencing
Published on: June 3, 2019
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Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing
Satoko Miyatake1,2, Eriko Koshimizu3, Atsushi Fujita3
1Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, 236-0004, Japan. miyatake@yokohama-cu.ac.jp.
NPJ Genomic Medicine
|October 26, 2022
Summary
A new diagnostic method using long-read sequencing accurately detects repeat expansion diseases. This faster, more comprehensive approach improves upon current low-throughput methods for neurological and neuromuscular conditions.
Area of Science:
- Genetics
- Neurology
- Bioinformatics
Background:
- Repeat expansion diseases are challenging to diagnose with current low-throughput methods.
- Accurate genetic diagnosis is crucial for understanding and managing neurological and neuromuscular disorders.
Purpose of the Study:
- To develop and validate a novel, high-throughput diagnostic method for repeat expansion diseases.
- To improve the speed, accuracy, and comprehensiveness of genetic diagnostics for neurological conditions.
Main Methods:
- Utilized nanopore GridION sequencing with adaptive sampling for real-time target enrichment.
- Developed a bioinformatics pipeline to prioritize disease-causing loci for analysis.
- Analyzed 22 patients with neurological/neuromuscular diseases, including those with diagnosed and undiagnosed repeat expansion diseases.
Main Results:
- Successfully confirmed expanded repeats in all 12 molecularly diagnosed patients with uniform coverage.
- Identified inaccuracies in diagnoses made by conventional methods in two patients.
- Demonstrated superior performance of the new method over conventional approaches.
Conclusions:
- The developed long-read sequencing method offers a significant advancement in diagnosing repeat expansion diseases.
- This approach enhances diagnostic capabilities for complex neurological and neuromuscular disorders.
- The method provides a faster, more accurate, and comprehensive diagnostic solution.
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