Marcel Kucharik

Bratislava, BL, Slovakia

Last Updated: 09/26/2026

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Found 23 publications

Telomere length as a biomarker for fetal fraction prediction in non-invasive prenatal testing.

Telomere length as a biomarker for fetal fraction prediction in non-invasive prenatal testing.

Journal: PloS one

Published: December 20, 2024

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

Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populations.

Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populations.

Journal: BMC genomics

Published: December 28, 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

Insights into non-informative results from non-invasive prenatal screening through gestational age, maternal BMI, and age analyses.

Insights into non-informative results from non-invasive prenatal screening through gestational age, maternal BMI, and age analyses.

Journal: PloS one

Published: January 09, 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

Maternal Copy Number Imbalances in Non-Invasive Prenatal Testing: Do They Matter?

Maternal Copy Number Imbalances in Non-Invasive Prenatal Testing: Do They Matter?

Journal: Diagnostics (Basel, Switzerland)

Published: October 21, 2022

Non-intuitive trends of fetal fraction development related to gestational age and fetal gender, and their practical implications for non-invasive prenatal testing.

Non-intuitive trends of fetal fraction development related to gestational age and fetal gender, and their practical implications for non-invasive prenatal testing.

Journal: Molecular and cellular probes

Published: September 09, 2022

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

Privacy-preserving storage of sequenced genomic data.

Privacy-preserving storage of sequenced genomic data.

Journal: BMC genomics

Published: March 22, 2021

Copy Number Variant Detection with Low-Coverage Whole-Genome Sequencing Represents a Viable Alternative to the Conventional Array-CGH.

Copy Number Variant Detection with Low-Coverage Whole-Genome Sequencing Represents a Viable Alternative to the Conventional Array-CGH.

Journal: Diagnostics (Basel, Switzerland)

Published: March 20, 2021

Showing 1-12 of 23

Last Updated: 09/26/2026