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Related Experiment Video

Updated: May 29, 2025

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

High-resolution repeat structure analysis in myotonic dystrophy type 2 diagnostics using short-read whole genome

Ingrid Lojova¹, Marcel Kucharik², Andrea Zatkova³

¹Institute of Clinical and Translational Research, Biomedical Research Center of the Slovak Academy of Sciences, Dúbravská Cesta 9, Karlova Ves, 845 05, Bratislava, Slovakia; Comenius University Science Park, Ilkovičova 8, Karlova Ves, 841, 04 Bratislava, Slovakia; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovičova 6, Karlova Ves, 841 04, Bratislava, Slovakia.

Analytical Biochemistry

|February 2, 2025

Summary

This summary is machine-generated.

Whole genome sequencing (WGS) offers a powerful new method for diagnosing myotonic dystrophy type 2 (DM2) by precisely characterizing repeat motifs. This approach shows promise for improving molecular diagnostics in tandem repeat disorders.

Keywords:

Massively parallel sequencing Myotonic dystrophy type 2 Repeat expansion disorders Tandem repeats Whole genome sequencing

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Ultra-long Read Sequencing for Whole Genomic DNA Analysis

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Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

Area of Science:

Genomics
Molecular Diagnostics

Background:

Myotonic dystrophy type 2 (DM2) diagnosis requires advanced molecular techniques.
Whole genome sequencing (WGS) and tandem repeat (TR) genotyping tools are emerging technologies.

Purpose of the Study:

To explore the potential and challenges of WGS for DM2 molecular diagnostics.
To characterize new opportunities in WGS-based DM2 diagnosis.

Main Methods:

WGS data analyzed from 50 individuals, including DM2 patients and a premutation carrier.
Tandem repeat characterization performed using a modified Dante tool.
WGS results validated against conventional PCR and repeat-primed PCR methods.

Main Results:

WGS successfully identified all expansion-range DM2 alleles and a premutation-range allele.
WGS provided more efficient characterization of normal-range alleles and CNBP-complex motif phasing.
A 97% concordance rate was observed between WGS and conventional methods, with minor discrepancies.

Conclusions:

Short-read WGS demonstrates significant potential for precise DM2 diagnostics.
WGS capabilities in repeat motif characterization may extend to other tandem repeat disorders (TRDs).