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001-es BibID:	BIBFORM065208
Első szerző:	Minarik, Gabriel
Cím:	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 / Gabriel Minarik, Gabriela Repiska, Michaela Hyblova, Emilia Nagyova, Katarina Soltys, Jaroslav Budis, Frantisek Duris, Rastislav Sysak, Maria Gerykova Bujalkova, Barbora Vlkova-Izrael, Orsolya Biro, Balint Nagy, Tomas Szemes
Dátum:	2015
ISSN:	1932-6203
Megjegyzések:	ObjectivesThe 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 silicoand physical size selection methods.MethodsSamples 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 ofin silico and physical size selection on analytical performance of the test was studied.ResultsUsing 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 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.ConclusionsNoninvasive 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
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban next generation sequencing trisomy 21 non-invasive free DNA
Megjelenés:	Plos One. - 10 (2015), p. 1-12. -
További szerzők:	Repiska, Gabriela Hyblova, Michaela Nagyova Emilia Soltys, Katarina Budis, Jaroslav Duris, Frantisek Sysak, Rastislav Bujalkova, Maria Gerykova Vlkova-Izrael, Barbora Biró Orsolya (molekuláris biológus) Nagy Bálint (1956-) (molekuláris genetikus) Szemes, Tomas (1980-) (biológus)
Internet cím:	DOI Intézményi repozitóriumban (DEA) tárolt változat
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