Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Ján Radvánszky"'
Autor:
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
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Clinical interpretation of copy number variants (CNVs) is a complex process that requires skilled clinical professionals. General recommendations have been recently released to guide the CNV interpretation based on predefined criteria to uni
Externí odkaz:
https://doaj.org/article/669e2d0d78c04bf7beeae744c9539f70
Autor:
Jozef Sitarčík, Tomáš Vinař, Broňa Brejová, Werner Krampl, Jaroslav Budiš, Ján Radvánszky, Mária Lucká
MotivationShort tandem repeats (STRs) are regions of a genome containing many consecutive copies of the same short motif, possibly with small variations. Analysis of STRs has many clinical uses, but is limited by technology mainly due to STRs surpass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c3ce61ad442e789e4629bf81bf03f123
https://doi.org/10.1101/2022.11.05.515275
https://doi.org/10.1101/2022.11.05.515275
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:
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
DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects
Autor:
Ondrej Pös, Jan Radvanszky, Gergely Buglyó, Zuzana Pös, Diana Rusnakova, Bálint Nagy, Tomas Szemes
Publikováno v:
Biomedical Journal, Vol 44, Iss 5, Pp 548-559 (2021)
Copy number variants (CNVs) were the subject of extensive research in the past years. They are common features of the human genome that play an important role in evolution, contribute to population diversity, development of certain diseases, and infl
Externí odkaz:
https://doaj.org/article/d9559a56f18e46cdb2b60fe062d1ff3c
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