Unknown

Dataset Information

0

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


ABSTRACT: BACKGROUND:Various algorithms have been developed to predict fetal trisomies using cell-free DNA in non-invasive prenatal testing (NIPT). As basis for prediction, a control group of non-trisomy samples is needed. Prediction accuracy is dependent on the characteristics of this group and can be improved by reducing variability between samples and by ensuring the control group is representative for the sample analyzed. RESULTS:NIPTeR is an open-source R Package that enables fast NIPT analysis and simple but flexible workflow creation, including variation reduction, trisomy prediction algorithms and quality control. This broad range of functions allows users to account for variability in NIPT data, calculate control group statistics and predict the presence of trisomies. CONCLUSION: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.

SUBMITTER: Johansson LF 

PROVIDER: S-EPMC6296037 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature

altmetric image

Publications

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

Johansson Lennart F LF   de Weerd Hendrik A HA   de Boer Eddy N EN   van Dijk Freerk F   Te Meerman Gerard J GJ   Sijmons Rolf H RH   Sikkema-Raddatz Birgit B   Swertz Morris A MA  

BMC bioinformatics 20181217 1


<h4>Background</h4>Various algorithms have been developed to predict fetal trisomies using cell-free DNA in non-invasive prenatal testing (NIPT). As basis for prediction, a control group of non-trisomy samples is needed. Prediction accuracy is dependent on the characteristics of this group and can be improved by reducing variability between samples and by ensuring the control group is representative for the sample analyzed.<h4>Results</h4>NIPTeR is an open-source R Package that enables fast NIPT  ...[more]

Similar Datasets

| S-EPMC4184262 | biostudies-other
| S-EPMC4956272 | biostudies-literature
| S-EPMC6281214 | biostudies-literature
| S-EPMC2951898 | biostudies-literature
| S-EPMC6502861 | biostudies-literature
| S-EPMC4225226 | biostudies-other
| S-EPMC5431782 | biostudies-literature
| S-EPMC4303457 | biostudies-other
| S-EPMC6609680 | biostudies-other
| S-EPMC5356998 | biostudies-literature