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Related Experiment Video

Updated: Jun 8, 2025

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

dmTGS: Precise Targeted Enrichment Long-Read Sequencing Panel for Tandem Repeat Detection.

Kang Yang^1,2, Yue Liu¹, Ji Zhang³

¹Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, China.

Clinical Chemistry

|November 4, 2024

Summary

A new sequencing method, dynamic mutation third-generation sequencing (dmTGS), accurately detects repeat sizes and interruptions in tandem repeats, outperforming traditional methods for diagnosing genetic disorders.

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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

Area of Science:

Genomics
Molecular Biology
Genetic Diagnostics

Background:

Tandem repeats (TRs) are prevalent in the human genome and linked to repeat expansion disorders.
Accurate detection of TRs is crucial for diagnosing these genetic conditions.

Purpose of the Study:

To develop and evaluate a tandem repeat panel using targeted long-read sequencing.
To assess the clinical utility of this novel method for repeat expansion disorders.

Main Methods:

Developed a targeted long-read sequencing panel (dmTGS) for 70 TR loci on the PacBio Sequel II platform.
Tested 108 samples from patients with suspected repeat expansion disorders.
Compared dmTGS performance against conventional molecular methods.

Main Results:

dmTGS provided high-fidelity reads, accurately quantifying repeat counts and distinguishing normal from expanded alleles.
The method showed high concordance with confirmatory tests and detected mosaicism at low percentages.
dmTGS identified interruptive motifs missed by conventional methods and precisely characterized TRs in genes like PLIN4, GIPC1, and DMPK.

Conclusions:

dmTGS accurately detects repeat sizes and interruption motifs in tandem repeats.
This method demonstrates superior performance compared to conventional molecular techniques for diagnosing repeat expansion disorders.