{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T20:11:37Z","timestamp":1773864697286,"version":"3.50.1"},"reference-count":9,"publisher":"Oxford University Press (OUP)","issue":"20","license":[{"start":{"date-parts":[[2016,11,7]],"date-time":"2016-11-07T00:00:00Z","timestamp":1478476800000},"content-version":"vor","delay-in-days":860,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>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.<\/jats:p>\n               <jats:p>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 .<\/jats:p>\n               <jats:p>Contact: \u00a0kitty.lo@ucl.ac.uk<\/jats:p>\n               <jats:p>Supplementary information: \u00a0Supplementary data are available at Bioinformatics online.<\/jats:p>","DOI":"10.1093\/bioinformatics\/btu419","type":"journal-article","created":{"date-parts":[[2014,7,3]],"date-time":"2014-07-03T00:27:22Z","timestamp":1404347242000},"page":"2965-2967","source":"Crossref","is-referenced-by-count":29,"title":["RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy"],"prefix":"10.1093","volume":"30","author":[{"given":"Kitty K.","family":"Lo","sequence":"first","affiliation":[{"name":"1 University College London Genetics Institute, University College London, UK and 2 North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK"}]},{"given":"Christopher","family":"Boustred","sequence":"additional","affiliation":[{"name":"1 University College London Genetics Institute, University College London, UK and 2 North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK"}]},{"given":"Lyn S.","family":"Chitty","sequence":"additional","affiliation":[{"name":"1 University College London Genetics Institute, University College London, UK and 2 North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK"}]},{"given":"Vincent","family":"Plagnol","sequence":"additional","affiliation":[{"name":"1 University College London Genetics Institute, University College London, UK and 2 North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK"}]}],"member":"286","published-online":{"date-parts":[[2014,7,1]]},"reference":[{"key":"2023012711562217100_btu419-B1","doi-asserted-by":"crossref","first-page":"20458","DOI":"10.1073\/pnas.0810641105","article-title":"Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma","volume":"105","author":"Chiu","year":"2008","journal-title":"Proc. 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