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. 2014 Oct 15;30(20):2965-7.
doi: 10.1093/bioinformatics/btu419. Epub 2014 Jul 1.

RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy

Kitty K Lo  1 , Christopher Boustred  1 , Lyn S Chitty  1 , Vincent Plagnol  1
Affiliations

RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy

Kitty K Lo et al. Bioinformatics. .

Abstract

Non-invasive prenatal testing (NIPT) of fetal aneuploidy using cell-free fetal DNA is becoming part of routine clinical practice. RAPIDR (Reliable Accurate Prenatal non-Invasive Diagnosis R package) is an easy-to-use open-source R package that implements several published NIPT analysis methods. The input to RAPIDR is a set of sequence alignment files in the BAM format, and the outputs are calls for aneuploidy, including trisomies 13, 18, 21 and monosomy X as well as fetal sex. RAPIDR has been extensively tested with a large sample set as part of the RAPID project in the UK. The package contains quality control steps to make it robust for use in the clinical setting.

Availability and implementation: RAPIDR is implemented in R and can be freely downloaded via CRAN from here: http://cran.r-project.org/web/packages/RAPIDR/index.html.

Contact: kitty.lo@ucl.ac.uk

Supplementary information: Supplementary data are available at Bioinformatics online.

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Figures

Fig. 1.
Fig. 1.
(a) Workflow of NIPT; (b) The z-scores across all the autosomes for a T21 sample, the triangles highlight chromosomes 13, 18 and 21 for which we test for aneuploidy; (c) Visual display of the criteria used to call fetal sex and chromosome aneuploidy
See this image and copyright information in PMC

References

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