Ontology highlight
ABSTRACT:
SUBMITTER: Gomez-Manjon I
PROVIDER: S-EPMC6011118 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Gómez-Manjón Irene I Moreno-Izquierdo Ana A Mayo Sonia S Moreno-García Marta M Delmiro Aitor A Escribano David D Fernández-Martínez F Javier FJ
BioMed research international 20180607
<h4>Objective</h4>The aim of this study was to determine if the use of different mappers for NIPT may vary the results considerably.<h4>Methods</h4>Peripheral blood was collected from 217 pregnant women, 58 pathological (34 pregnancies with trisomy 21, 18 with trisomy 18, and 6 with trisomy 13) and 159 euploid. MPS was performed following a manufacturer's modified protocol of semiconductor sequencing. Obtained reads were mapped with two different software programs: TMAP and HPG-Aligner, comparin ...[more]