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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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692262/
https://www.ncbi.nlm.nih.gov/pubmed/26669558
http://dx.doi.org/10.1371/journal.pone.0144811