Rapidr-Plus

Non-invasive prenatal testing for aneuploidies and microdeletion syndromes

Background

Rapidr is an R package that performs the analysis for non-invasive prenatal testing (NIPT) using cell-free DNA from the maternal plasma. Our software was developed to support a UK national program to evaluate the use of NIPT for trisomies. Here is more information on the study.

NIPT for aneuploidies

There are two versions of Rapidr - the basic version performs the analysis for the detection of aneuploidies such as Down's syndrome and fetal sex determination. It is available as a package on CRAN here. You can install it using an R terminal as follows: 

$ install.packages("RAPIDR")

If you use our software, please cite the following:
Lo, K.K. et al., 2014. RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy. Bioinformatics, 30(20):2965-7.

NIPT for microdeletion and microduplication sydnromes

The extended version, Rapidr-Plus provides the functionality to call microdeletion and microduplication syndromes using cfDNA, in any location and size across the genome. The input to Rapidr-Plus is the same as for the basic Rapidr - aligned bam files of the test case and a set of reference samples.

To obtain a copy of the RAPIDR-Plus package, please fill in the form below and we will email you the download instructions. Rapidr-Plus is free for academic use. Please contact us if you wish to use Rapidr-Plus for commercial purposes.

We welcome any comments and suggestions, contact us at kitty.lo@ucl.ac.uk