Spolupracovali sme na publikáciach
2025
1.
Lojova, Ingrid; Kucharik, Marcel; Zatkova, Andrea; Balaz, Andrej; Pös, Zuzana; Tarova, Eva Tothova; Kadasi, Ludevit; Budis, Jaroslav; Szemes, Tomas; Radvanszky, Jan
High-resolution repeat structure analysis in myotonic dystrophy type 2 diagnostics using short-read whole genome sequencing Journal Article
V: Analytical Biochemistry, 700 , 2025, ISSN: 00032697.
Abstrakt | Linky | BibTeX | Značky: Tandem repeats
@article{Lojova2025b,
title = {High-resolution repeat structure analysis in myotonic dystrophy type 2 diagnostics using short-read whole genome sequencing},
author = {Ingrid Lojova and Marcel Kucharik and Andrea Zatkova and Andrej Balaz and Zuzana Pös and Eva Tothova Tarova and Ludevit Kadasi and Jaroslav Budis and Tomas Szemes and Jan Radvanszky},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85216852747&doi=10.1016%2fj.ab.2025.115793&partnerID=40&md5=5e90e029e81de2fdb0357a46a635f724},
doi = {10.1016/j.ab.2025.115793},
issn = {00032697},
year = {2025},
date = {2025-01-01},
urldate = {2025-01-01},
journal = {Analytical Biochemistry},
volume = {700},
publisher = {Academic Press Inc.},
abstract = {Background/Objectives: Diagnostic possibilities for myotonic dystrophy type 2 (DM2) are constantly evolving in order to achieve more accurate and faster diagnosis. Whole genome sequencing (WGS), together with specialized tandem repeat (TR) genotyping bioinformatic tools, represent a breakthrough technology in molecular diagnostics. We decided to characterize new opportunities and challenges in WGS-based DM2 molecular diagnostics. Methods: WGS data were obtained from 50 individuals, including five DM2 patients, and one individual carrying a premutation range allele. TR characterization was performed using a modified version of the Dante tool, with results validated by conventional PCR and repeat-primed PCR. Results: We used WGS to identify all of the expansion-range DM2 alleles, together with the premutation-range allele. Compared to conventional methods, WGS was more efficient for a detailed sequence structure characterization of the normal-range alleles, and phasing of the entire CNBP-complex motif. A 97 % genotyping concordance rate was achieved between the conventional methods and the WGS-derived results, with discrepancies mainly based on single-repeat differences in the genotypes. The stutter effect introduced some uncertainty in both methods. Conclusion: Short-read WGS offers significant potential for DM2 diagnostics by enabling precise repeat motif characterization and may also apply to other tandem repeat disorders (TRDs). © 2025 The Authors},
keywords = {Tandem repeats},
pubstate = {published},
tppubtype = {article}
}
Background/Objectives: Diagnostic possibilities for myotonic dystrophy type 2 (DM2) are constantly evolving in order to achieve more accurate and faster diagnosis. Whole genome sequencing (WGS), together with specialized tandem repeat (TR) genotyping bioinformatic tools, represent a breakthrough technology in molecular diagnostics. We decided to characterize new opportunities and challenges in WGS-based DM2 molecular diagnostics. Methods: WGS data were obtained from 50 individuals, including five DM2 patients, and one individual carrying a premutation range allele. TR characterization was performed using a modified version of the Dante tool, with results validated by conventional PCR and repeat-primed PCR. Results: We used WGS to identify all of the expansion-range DM2 alleles, together with the premutation-range allele. Compared to conventional methods, WGS was more efficient for a detailed sequence structure characterization of the normal-range alleles, and phasing of the entire CNBP-complex motif. A 97 % genotyping concordance rate was achieved between the conventional methods and the WGS-derived results, with discrepancies mainly based on single-repeat differences in the genotypes. The stutter effect introduced some uncertainty in both methods. Conclusion: Short-read WGS offers significant potential for DM2 diagnostics by enabling precise repeat motif characterization and may also apply to other tandem repeat disorders (TRDs). © 2025 The Authors