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Christopher Boustred

dblp:152/3568 · DBLP profile ↗
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1ranked-venue papers
0as first author
0since 2021 · last 2014
—ORCID · none

Domains — the database's venue-derived domains; a paper can count in several

Applied, interdisciplinary, general and emerging computing · 1

Expertise — from the expertise taxonomy: the topics of the expert's papers under the CCF categories. A weight counts papers with recency: 1 for a paper about the topic, 0.3 when the topic is its context, halved every five years.

Interdisciplinary, comprehensive, and emerging computing
1 paper
Medical and health informatics · 87% Bioinformatics and computational biology · 13%

Topics — the 2 heaviest of 3, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Medical and health informatics › clinical genomics › non-invasive prenatal testing
fetal aneuploidy detection
0.212014
RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy · Bioinform. 2014
Medical and health informatics › clinical genomics
non-invasive prenatal testing
0.212014
RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy · Bioinform. 2014

Methods — techniques the papers use, named apart from their topics

sequence alignment analysis · 0.2quality control · 0.2
YearPublicationVenuePosition
2014 RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy
abstract
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 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: [email protected] SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
Kitty K. Lo, Christopher Boustred, Lyn S. Chitty, Vincent Plagnol
Bioinform.2