Dissemin is shutting down on January 1st, 2025

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Oxford University Press (OUP), Bioinformatics, 20(30), p. 2965-2967

DOI: 10.1093/bioinformatics/btu419

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

Journal article published in 2014 by Kitty K. Lo, Christopher Boustred, Lyn S. Chitty ORCID, Vincent Plagnol ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.