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

Authors: Ingrid Lojova, Marcel Kucharik, Zuzana Pös, Andrej Balaz, Andrea Zatkova, Eva Tothova Tarova, Jaroslav Budis, Ludevit Kadasi, Tomas Szemes, Jan Radvanszky

Source: Molecular and Cellular Probes, Vol 79, Iss , Pp 102005- (2025)

Subject Terms: Massively parallel sequencing, Myotonic dystrophy type 1, Repeat expansion disorders, Tandem repeats, Whole genome sequencing, Biology (General), QH301-705.5, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0890850824000574; https://doaj.org/toc/0890-8508

Access URL: https://doaj.org/article/fee6c6affefb4e47b519fff932526a46

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

Authors: Katerina Kvapilova, Pavol Misenko, Jan Radvanszky, Ondrej Brzon, Jaroslav Budis, Juraj Gazdarica, Ondrej Pos, Marie Korabecna, Martin Kasny, Tomas Szemes, Petr Kvapil, Jan Paces, Zbynek Kozmik

Source: BMC Genomics, Vol 25, Iss 1, Pp 1-17 (2024)

Subject Terms: Genomics variant analysis, Saliva-derived gDNA, Whole genome sequencing, Whole exome sequencing, Validation guideline, Biotechnology, TP248.13-248.65, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2164

Access URL: https://doaj.org/article/a0a7b7e5449b4f6383ccc83c0d0fa3f4

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

Authors: Natalia Forgacova, Zuzana Holesova, Rastislav Hekel, Tatiana Sedlackova, Zuzana Pos, Lucia Krivosikova, Pavol Janega, Kristina Mikus Kuracinova, Pavel Babal, Peter Radvak, Jan Radvanszky, Juraj Gazdarica, Jaroslav Budis, Tomas Szemes

Source: BMC Genomics, Vol 24, Iss 1, Pp 1-11 (2023)

Subject Terms: SARS-CoV-2, COVID-19, Whole-exome sequencing, Genetic association, Polymorphisms, Gnomad, Biotechnology, TP248.13-248.65, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2164

Access URL: https://doaj.org/article/57f4b640e0fc4f3a86fc6b28c57dc86e

Privacy-preserving storage of sequenced genomic data

Authors: Rastislav Hekel, Jaroslav Budis, Marcel Kucharik, Jan Radvanszky, Zuzana Pös, Tomas Szemes

Source: BMC Genomics, Vol 22, Iss 1, Pp 1-13 (2021)

Subject Terms: Genomic privacy, Personal data, Genomic reads, Biotechnology, TP248.13-248.65, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2164

Access URL: https://doaj.org/article/8d4f9a253eec4e57b306a5acc0b8fa2b

DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects

Authors: Ondrej Pös, Jan Radvanszky, Gergely Buglyó, Zuzana Pös, Diana Rusnakova, Bálint Nagy, Tomas Szemes

Source: Biomedical Journal, Vol 44, Iss 5, Pp 548-559 (2021)

Subject Terms: Copy number variants, Structural variation, Human genome, CNV formation, Evolution, Genetic diseases, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2319417021000093; https://doaj.org/toc/2319-4170

Access URL: https://doaj.org/article/d9559a56f18e46cdb2b60fe062d1ff3c

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

Authors: Marcel Kucharik, Andrej Gnip, Michaela Hyblova, Jaroslav Budis, Lucia Strieskova, Maria Harsanyova, Ondrej Pös, Zuzana Kubiritova, Jan Radvanszky, Gabriel Minarik, Tomas Szemes

Source: PLoS ONE, Vol 15, Iss 8, p e0238245 (2020)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/bb1161995b534136bb456d23dfbea83c

Extracellular DNA Correlates with Intestinal Inflammation in Chemically Induced Colitis in Mice

Authors: Martin Maronek, Barbora Gromova, Robert Liptak, Barbora Konecna, Michal Pastorek, Barbora Cechova, Maria Harsanyova, Jaroslav Budis, David Smolak, Jan Radvanszky, Tomas Szemes, Jana Harsanyiova, Alzbeta Kralova Trancikova, Roman Gardlik

Source: Cells, Vol 10, Iss 1, p 81 (2021)

Subject Terms: cell-free DNA, ulcerative colitis, neutrophil extracellular traps, deoxyribonuclease activity, PAD4, Cytology, QH573-671

File Description: electronic resource

Relation: https://www.mdpi.com/2073-4409/10/1/81; https://doaj.org/toc/2073-4409

Access URL: https://doaj.org/article/f7e31031a00c4950a0b8308b48a46fb1

Copy Number Variation: Methods and Clinical Applications

Authors: Ondrej Pös, Jan Radvanszky, Jakub Styk, Zuzana Pös, Gergely Buglyó, Michal Kajsik, Jaroslav Budis, Bálint Nagy, Tomas Szemes

Source: Applied Sciences, Vol 11, Iss 2, p 819 (2021)

Subject Terms: copy number variants, cytogenetics, molecular methods, bioinformatics tools, CNV detection, CNV interpretation, Technology, Engineering (General). Civil engineering (General), TA1-2040, Biology (General), QH301-705.5, Physics, QC1-999, Chemistry, QD1-999

File Description: electronic resource

Relation: https://www.mdpi.com/2076-3417/11/2/819; https://doaj.org/toc/2076-3417

Access URL: https://doaj.org/article/388700c856d4454a9222658b30135c53

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

Authors: Eva, RADVANSKA, Zuzana, POS, Andrea, ZATKOVA, Michaela, HYBLOVA, Frantisek, BAUER, Tomas, SZEMES, Ludevit, KADASI, Jan, RADVANSZKY

Source: Bratislava Medical Journal / Bratislavské Lekárske Listy; 2022, Vol. 123 Issue 8, p568-572, 5p

Subject Terms: MOTOR neurons, SPINAL muscular atrophy, HAPLOTYPES, CELL death, GENETIC testing

Geographic Terms: SLOVAKIA

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

Authors: Tomáš Sládeček, Michaela Gažiová, Marcel Kucharík, Andrea Zaťková, Zuzana Pös, Ondrej Pös, Werner Krampl, Erika Tomková, Michaela Hýblová, Gabriel Minárik, Ján Radvánszky, Jaroslav Budiš, Tomáš Szemes

Source: Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/669e2d0d78c04bf7beeae744c9539f70