Jan Radvanszky

Bratislava, BL, Slovakia

Last Updated: 09/26/2026

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Found 40 publications

Advancing molecular diagnostics of myotonic dystrophy type 1 using short-read whole genome sequencing.

Advancing molecular diagnostics of myotonic dystrophy type 1 using short-read whole genome sequencing.

Journal: Molecular and cellular probes

Published: December 05, 2024

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

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

Journal: Analytical biochemistry

Published: October 02, 2024

Validated WGS and WES protocols proved saliva-derived gDNA as an equivalent to blood-derived gDNA for clinical and population genomic analyses.

Validated WGS and WES protocols proved saliva-derived gDNA as an equivalent to blood-derived gDNA for clinical and population genomic analyses.

Journal: BMC genomics

Published: September 05, 2023

APOC3 and ABCA1 variants in unusual combined hypolipidaemia showing premature peripheral vascular disease.

APOC3 and ABCA1 variants in unusual combined hypolipidaemia showing premature peripheral vascular disease.

Journal: Bratislavske lekarske listy

Published: March 06, 2023

Combination of expert guidelines-based and machine learning-based approaches leads to superior accuracy of automated prediction of clinical effect of copy number variations.

Combination of expert guidelines-based and machine learning-based approaches leads to superior accuracy of automated prediction of clinical effect of copy number variations.

Journal: Scientific reports

Published: February 10, 2023

SnakeLines: integrated set of computational pipelines for sequencing reads.

SnakeLines: integrated set of computational pipelines for sequencing reads.

Journal: Journal of integrative bioinformatics

Published: December 17, 2022

WarpSTR: determining tandem repeat lengths using raw nanopore signals.

WarpSTR: determining tandem repeat lengths using raw nanopore signals.

Journal: Bioinformatics (Oxford, England)

Published: November 07, 2022

Microsatellite instability assessment is instrumental for Predictive, Preventive and Personalised Medicine: status quo and outlook.

Microsatellite instability assessment is instrumental for Predictive, Preventive and Personalised Medicine: status quo and outlook.

Journal: The EPMA journal

Published: August 31, 2022

Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children.

Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children.

Journal: Bratislavske lekarske listy

Published: July 19, 2022

Evaluation and limitations of different approaches among COVID-19 fatal cases using whole-exome sequencing data.

Evaluation and limitations of different approaches among COVID-19 fatal cases using whole-exome sequencing data.

Journal: BMC genomics

Published: February 28, 2022

Characterisation of Non-Pathogenic Premutation-Range Myotonic Dystrophy Type 2 Alleles.

Characterisation of Non-Pathogenic Premutation-Range Myotonic Dystrophy Type 2 Alleles.

Journal: Journal of clinical medicine

Published: July 07, 2021

Automated prediction of the clinical impact of structural copy number variations.

Automated prediction of the clinical impact of structural copy number variations.

Journal: Scientific reports

Published: May 14, 2021

Showing 1-12 of 40

Last Updated: 09/26/2026