NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing.

Lennart F JohanssonHendrik A de WeerdEddy N de BoerFreerk van DijkGerard J Te MeermanRolf H SijmonsBirgit Sikkema-RaddatzMorris A Swertz

Published in: BMC bioinformatics (2018)

NIPTeR supports laboratories processing next-generation sequencing data for NIPT in assessing data quality and determining whether a fetal trisomy is present. NIPTeR is available under the GNU LGPL v3 license and can be freely downloaded from https://github.com/molgenis/NIPTeR or CRAN.

Keyphrases

electronic health record
big data
pregnant women
high resolution
gene expression
copy number
data analysis
dna methylation
deep learning