Zobrazeno 1 - 10
of 83
pro vyhledávání: '"Jaroslav Budis"'
Autor:
Zuzana Holesova, Ondrej Pös, Juraj Gazdarica, Marcel Kucharik, Jaroslav Budis, Michaela Hyblova, Gabriel Minarik, Tomas Szemes
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-9 (2024)
Abstract Large-scale copy number variants (CNVs) are structural alterations in the genome that involve the duplication or deletion of DNA segments, contributing to genetic diversity and playing a crucial role in the evolution and development of vario
Externí odkaz:
https://doaj.org/article/e2724069ca334bb2904c9e72e6f86bea
Autor:
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
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-17 (2024)
Abstract Background Whole exome sequencing (WES) and whole genome sequencing (WGS) have become standard methods in human clinical diagnostics as well as in population genomics (POPGEN). Blood-derived genomic DNA (gDNA) is routinely used in the clinic
Externí odkaz:
https://doaj.org/article/a0a7b7e5449b4f6383ccc83c0d0fa3f4
Autor:
Juraj Gazdarica, Natalia Forgacova, Tomas Sladecek, Marcel Kucharik, Jaroslav Budis, Michaela Hyblova, Martina Sekelska, Andrej Gnip, Gabriel Minarik, Tomas Szemes
Publikováno v:
PLoS ONE, Vol 19, Iss 3, p e0280858 (2024)
The discovery of cell-free fetal DNA fragments in the maternal plasma initiated a novel testing method in prenatal care, called non-invasive prenatal screening (NIPS). One of the limitations of NIPS is the necessity for a sufficient proportion of fet
Externí odkaz:
https://doaj.org/article/4534c0d8a6454f4e93479f59541e5fb6
Autor:
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
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-11 (2023)
Abstract Background COVID-19 caused by the SARS-CoV-2 infection may result in various disease symptoms and severity, ranging from asymptomatic, through mildly symptomatic, up to very severe and even fatal cases. Although environmental, clinical, and
Externí odkaz:
https://doaj.org/article/57f4b640e0fc4f3a86fc6b28c57dc86e
Publikováno v:
BMC Genomics, Vol 22, Iss 1, Pp 1-13 (2021)
Abstract Background The current and future applications of genomic data may raise ethical and privacy concerns. Processing and storing of this data introduce a risk of abuse by potential offenders since the human genome contains sensitive personal in
Externí odkaz:
https://doaj.org/article/8d4f9a253eec4e57b306a5acc0b8fa2b
Autor:
Michaela Hyblova, Andrej Gnip, Marcel Kucharik, Jaroslav Budis, Martina Sekelska, Gabriel Minarik
Publikováno v:
Diagnostics, Vol 12, Iss 12, p 3056 (2022)
Non-invasive prenatal testing (NIPT) has become a routine practice in screening for common aneuploidies of chromosomes 21, 18, and 13 and gonosomes X and Y in fetuses worldwide since 2015 and has even expanded to include smaller subchromosomal events
Externí odkaz:
https://doaj.org/article/888319e9c9584fc89919b53cdedaa5cf
Autor:
Marcel Kucharik, Andrej Gnip, Michaela Hyblova, Jaroslav Budis, Lucia Strieskova, Maria Harsanyova, Ondrej Pös, Zuzana Kubiritova, Jan Radvanszky, Gabriel Minarik, Tomas Szemes
Publikováno v:
PLoS ONE, Vol 15, Iss 8, p e0238245 (2020)
To study the detection limits of chromosomal microaberrations in non-invasive prenatal testing with aim for five target microdeletion syndromes, including DiGeorge, Prader-Willi/Angelman, 1p36, Cri-Du-Chat, and Wolf-Hirschhorn syndromes. We used know
Externí odkaz:
https://doaj.org/article/bb1161995b534136bb456d23dfbea83c
Autor:
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
Publikováno v:
Cells, Vol 10, Iss 1, p 81 (2021)
Circulating extracellular DNA (ecDNA) is known to worsen the outcome of many diseases. ecDNA released from neutrophils during infection or inflammation is present in the form of neutrophil extracellular traps (NETs). It has been shown that higher ecD
Externí odkaz:
https://doaj.org/article/f7e31031a00c4950a0b8308b48a46fb1
Autor:
Ondrej Pös, Jan Radvanszky, Jakub Styk, Zuzana Pös, Gergely Buglyó, Michal Kajsik, Jaroslav Budis, Bálint Nagy, Tomas Szemes
Publikováno v:
Applied Sciences, Vol 11, Iss 2, p 819 (2021)
Gains and losses of large segments of genomic DNA, known as copy number variants (CNVs) gained considerable interest in clinical diagnostics lately, as particular forms may lead to inherited genetic diseases. In recent decades, researchers developed
Externí odkaz:
https://doaj.org/article/388700c856d4454a9222658b30135c53
Autor:
Zuzana Pös, Ondrej Pös, Jakub Styk, Angelika Mocova, Lucia Strieskova, Jaroslav Budis, Ludevit Kadasi, Jan Radvanszky, Tomas Szemes
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 22, p 8634 (2020)
Analyzes of cell-free nucleic acids (cfNAs) have shown huge potential in many biomedical applications, gradually entering several fields of research and everyday clinical care. Many biological properties of cfNAs can be informative to gain deeper ins
Externí odkaz:
https://doaj.org/article/a947574e6c3e48cabd2b66390b40d976