@article{MTMT:2992681,
	title = {Utilization of Benchtop Next Generation Sequencing Platforms Ion Torrent PGM and MiSeq in Noninvasive Prenatal Testing for Chromosome 21 Trisomy and Testing of Impact of In Silico and Physical Size Selection on Its Analytical Performance},
	url = {https://m2.mtmt.hu/api/publication/2992681},
	author = {Minarik, G and Repiska, G and Hyblova, M and Nagyova, E and Soltys, K and Budis, J and Duris, F and Sysak, R and Gerykova, Bujalkova M and Vlkova-Izrael, B and Biró, Orsolya and Nagy, Bálint and Szemes, T},
	doi = {10.1371/journal.pone.0144811},
	journal-iso = {PLOS ONE},
	journal = {PLOS ONE},
	volume = {10},
	unique-id = {2992681},
	issn = {1932-6203},
	abstract = {OBJECTIVES: The aims of this study were to test the utility of benchtop NGS platforms for NIPT for trisomy 21 using previously published z score calculation methods and to optimize the sample preparation and data analysis with use of in silico and physical size selection methods. METHODS: Samples from 130 pregnant women were analyzed by whole genome sequencing on benchtop NGS systems Ion Torrent PGM and MiSeq. The targeted yield of 3 million raw reads on each platform was used for z score calculation. The impact of in silico and physical size selection on analytical performance of the test was studied. RESULTS: Using a z score value of 3 as the cut-off, 98.11% - 100% (104-106/106) specificity and 100% (24/24) sensitivity and 99.06% - 100% (105-106/106) specificity and 100% (24/24) sensitivity were observed for Ion Torrent PGM and MiSeq, respectively. After in silico based size selection both platforms reached 100% specificity and sensitivity. Following the physical size selection z scores of tested trisomic samples increased significantly-p = 0.0141 and p = 0.025 for Ion Torrent PGM and MiSeq, respectively. CONCLUSIONS: Noninvasive prenatal testing for chromosome 21 trisomy with the utilization of benchtop NGS systems led to results equivalent to previously published studies performed on high-to-ultrahigh throughput NGS systems. The in silico size selection led to higher specificity of the test. Physical size selection performed on isolated DNA led to significant increase in z scores. The observed results could represent a basis for increasing of cost effectiveness of the test and thus help with its penetration worldwide.},
	year = {2015},
	eissn = {1932-6203},
	orcid-numbers = {Biró, Orsolya/0000-0002-4300-3602; Nagy, Bálint/0000-0002-0295-185X}
}

@article{MTMT:3106721,
	title = {Inflammasome activation and function in liver disease},
	url = {https://m2.mtmt.hu/api/publication/3106721},
	author = {Szabó, Gyöngyi and Petrasek, J},
	doi = {10.1038/nrgastro.2015.94},
	journal-iso = {NAT REV GASTRO HEPAT},
	journal = {NATURE REVIEWS GASTROENTEROLOGY & HEPATOLOGY},
	volume = {12},
	unique-id = {3106721},
	issn = {1759-5045},
	abstract = {Inflammation contributes to the pathogenesis of most acute and chronic liver diseases. Inflammasomes are multiprotein complexes that can sense danger signals from damaged cells and pathogens and assemble to mediate caspase-1 activation, which proteolytically activates the cytokines IL-1 beta and IL-18. In contrast to other inflammatory responses, inflammasome activation uniquely requires two signals to induce inflammation, therefore setting an increased threshold. IL-1 beta, generated upon caspase-1 activation, provides positive feed-forward stimulation for inflammatory cytokines, thereby amplifying inflammation. Inflammasome activation has been studied in different human and experimental liver diseases and has been identified as a major contributor to hepatocyte damage, immune cell activation and amplification of liver inflammation. In this Review, we discuss the different types of inflammasomes, their activation and biological functions in the context of liver injury and disease progression. Specifically, we focus on the triggers of inflammasome activation in alcoholic steatohepatitis and NASH, chronic HCV infection, ischaemia-reperfusion injury and paracetamol-induced liver injury. The application and translation of these discoveries into therapies promises novel approaches in the treatment of inflammation in liver disease.},
	year = {2015},
	eissn = {1759-5053},
	pages = {387-400}
}