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

1 Jul 2014

Abstract excerpt

UNLABELLED: 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...

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PMID: 24990604
DOI: 10.1093/bioinformatics/btu419

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