Találati lista | Tudóstér

001-es BibID:	BIBFORM090548
035-os BibID:	(Scopus)85099826325 (WOS)000610904200001 (cikkazonosító)819
Első szerző:	Pös, Ondrej (biológus)
Cím:	Copy Number Variation : methods and Clinical Applications / Ondrej Pös, Jan Radvanszky, Jakub Styk, Zuzana Pös, Gergely Buglyó, Michal Kajsik, Jaroslav Budis, Bálint Nagy, Tomas Szemes
Dátum:	2021
ISSN:	2076-3417
Megjegyzések:	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 a wide variety of cytogenetic and molecular methods with different detection capabilities to detect clinically relevant CNVs. In this review, we summarize methodological progress from conventional approaches to current state of the art techniques capable of detecting CNVs from a few bases up to several megabases. Although the recent rapid progress of sequencing methods has enabled precise detection of CNVs, determining their functional effect on cellular and whole-body physiology remains a challenge. Here, we provide a comprehensive list of databases and bioinformatics tools that may serve as useful assets for researchers, laboratory diagnosticians, and clinical geneticists facing the challenge of CNV detection and interpretation.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk copy number variants CNV detection CNV interpretation bioinformatics tools molecular methods
Megjelenés:	Applied Sciences-Basel. - 11 : 2 (2021), p. 1-16. -
További szerzők:	Radvanszky, Jan Styk, Jakub Pös, Zuzana Buglyó Gergely (1980-) (genetikus) Kajsik, Michal Budis, Jaroslav Nagy Bálint (1956-) (molekuláris genetikus) Szemes, Tomas (1980-) (biológus)
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon:

001-es BibID:	BIBFORM074288
Első szerző:	Szemes, Tomas (biológus)
Cím:	Are phages part of our immunity? / Tomas Szemes, Andrej Balaz, Michal Kajsik, Iveta Gazdaricova, Orsolya Biro, Balint Nagy, Jan Turna, Jaroslav Budis
Dátum:	2018
Megjegyzések:	Introduction: Several non-invasive prenatal tests (NIPT) use total DNA massively parallel sequencing. A portion of sequences are not mapped to human genome reference sequence and is filtered out in the NIPT analysis. Our aim was to determine source of unmapped reads. Preliminary data suggests presence of bacteriophage DNA in human circulation. Materials and methods: We carried out massively parallel sequencing of total DNA from plasma from group of healthy individuals and individuals undergoing antiviral treatment. DNA fragments which mapped to the human reference genome (version hg38) were filtered. We assigned each unmapped fragment a taxonomic label using metagenomic classifier Clark. Taxonomic composition of samples was compared and visualized using Krona graphs. We assembled filtered reads using assembler specialized for assembly of viral genomes called Savage.Results: We identified presence of phage sequences in a small number of reads in studied samples of healthy individuals. In addition, we observed significant drop in phage sequences in individuals undergoing antiviral treatment. In the results we present breakdown of the identified phage data.Conclusions: Preliminary data suggest presence of phage DNA in circulating free nucleic acids. We hypothesize that host immune system tolerates phages to assist in control and stabilization of microenvironment. More rigorous analysis needs to be carried out and supportive experiments are needed to confirm the finding as well as to study our hypotheses.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idézhető absztrakt DNA phage MPS
Megjelenés:	Biomedical Papers. - 162 : Suppl. 1 (2018), p. S14. -
További szerzők:	Balaz, Andrej Kajsik, Michal Gazdaricova, Iveta Biró Orsolya (molekuláris biológus) Nagy Bálint (1956-) (molekuláris genetikus) Turna, Jan Budis, Jaroslav
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon: