High-resolution repeat structure analysis in myotonic dystrophy type 2 diagnostics using short-read whole genome sequencing
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).
Authors
- Jaroslav Budiš (ORCID: https://orcid.org/0000-0002-8667-6655)
- Andrea Zaťková (ORCID: https://orcid.org/0000-0002-4105-3868)
- Marcel Kucharík
- Ľudevít Kádaši
- Ján Radvánszky (ORCID: https://orcid.org/0000-0001-9657-1198)
- Andrej Baláž
- Zuzana Pös (ORCID: https://orcid.org/0000-0001-6572-4809)
- Tomáš Szemes (ORCID: https://orcid.org/0000-0002-0900-2534)
- Éva Tóthová Tarová (ORCID: https://orcid.org/0000-0001-9476-608X)
- Ingrid Lojová
Institutions
- Biomedical Research Center of the Slovak Academy of Sciences (SK)
- Comenius University Bratislava (SK)
Publication Details
- Journal
- Analytical Biochemistry
- Published
- 2025-02-01
- DOI
- https://doi.org/10.1016/j.ab.2025.115793
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Slovenská Akadémia Vied
- Agentúra na Podporu Výskumu a Vývoja
- Agentúra Ministerstva Školstva, Vedy, Výskumu a Športu SR
- H2020 Marie Skłodowska-Curie Actions