ArticleBMC bioinformatics2018
NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing.
Article in BMC bioinformatics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
8 citing papers in PubMed.
- Circulating tumor DNA precision oncology enables effective and sensitive molecular diagnostics and actionable target detection in pediatric solid tumors - the INFORM experience.Genome medicine · 2026Article
- Identification of autosomal and sex chromosome aneuploidies using next generation sequencing.Bioinformatics (Oxford, England) · 2026Article
- KF-NIPT: K-mer and fetal fraction-based estimation of chromosomal anomaly from NIPT data.BMC bioinformatics · 2025Article
- MaterniCode: New Bioinformatic Pipeline to Detect Fetal Aneuploidies and Rearrangements Using Next-Generation Sequencing.International journal of genomics · 2024Article
- Article
- Combined Model-Based Prediction for Non-Invasive Prenatal Screening.International journal of molecular sciences · 2022Article
- Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples.PLoS computational biology · 2021Article
- Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
backgroundVarious 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.
resultsNIPTeR 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.
conclusionNIPTeR 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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.