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

by Marcel Kucharík, Jaroslav Budiš, Michaela Hýblová, Gabriel Minárik, Tomáš Szemes
Published 2021-04-01

Privacy-preserving storage of sequenced genomic data

by Rastislav Hekel, Jaroslav Budis, Marcel Kucharik, Jan Radvanszky, Zuzana Pös, Tomas Szemes
Published 2021-10-01

Identification of Structural Variation from NGS-Based Non-Invasive Prenatal Testing

by Ondrej Pös, Jaroslav Budis, Zuzana Kubiritova, Marcel Kucharik, Frantisek Duris, Jan Radvanszky, Tomas Szemes
Published 2019-09-01

Validation of Copy Number Variants Detection from Pregnant Plasma Using Low-Pass Whole-Genome Sequencing in Noninvasive Prenatal Testing-Like Settings

by Michaela Hyblova, Maria Harsanyova, Diana Nikulenkov-Grochova, Jitka Kadlecova, Marcel Kucharik, Jaroslav Budis, Gabriel Minarik
Published 2020-08-01

Combination of Fetal Fraction Estimators Based on Fragment Lengths and Fragment Counts in Non-Invasive Prenatal Testing

by Juraj Gazdarica, Rastislav Hekel, Jaroslav Budis, Marcel Kucharik, Frantisek Duris, Jan Radvanszky, Jan Turna, Tomas Szemes
Published 2019-08-01

Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions.

by Marcel Kucharik, Andrej Gnip, Michaela Hyblova, Jaroslav Budis, Lucia Strieskova, Maria Harsanyova, Ondrej Pös, Zuzana Kubiritova, Jan Radvanszky, Gabriel Minarik, Tomas Szemes
Published 2020-01-01

Result of Prospective Validation of the Trisomy Test^® for the Detection of Chromosomal Trisomies

by Martina Sekelska, Anita Izsakova, Katarina Kubosova, Petra Tilandyova, Erika Csekes, Zaneta Kuchova, Michaela Hyblova, Maria Harsanyova, Marcel Kucharik, Jaroslav Budis, Tomas Szemes, Gabriel Minarik
Published 2019-10-01