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

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 fr...

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Dettagli Bibliografici
Pubblicato in:PLoS One
Autori principali: Minarik, Gabriel, Repiska, Gabriela, Hyblova, Michaela, Nagyova, Emilia, Soltys, Katarina, Budis, Jaroslav, Duris, Frantisek, Sysak, Rastislav, Gerykova Bujalkova, Maria, Vlkova-Izrael, Barbora, Biro, Orsolya, Nagy, Balint, Szemes, Tomas
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2015
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4692262/
https://ncbi.nlm.nih.gov/pubmed/26669558
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0144811
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