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Rachel J. Buchan

dblp:211/6182 · DBLP profile ↗
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1ranked-venue papers
0as first author
0since 2021 · last 2018
0000-0003-2490-9289ORCID · verified

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 · 75% Bioinformatics and computational biology · 25%

Topics — the 4 heaviest of 4, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Medical and health informatics
cardiac image analysis
0.312018
Three-dimensional cardiovascular imaging-genetics: a mass univariate framework · Bioinform. 2018
Bioinformatics and computational biology
imaging genetics
0.312018
Three-dimensional cardiovascular imaging-genetics: a mass univariate framework · Bioinform. 2018
Medical and health informatics › medical imaging › medical image analysis
medical image segmentation
0.312018
Three-dimensional cardiovascular imaging-genetics: a mass univariate framework · Bioinform. 2018
Medical and health informatics › medical imaging › medical image analysis
statistical shape modeling
0.312018
Three-dimensional cardiovascular imaging-genetics: a mass univariate framework · Bioinform. 2018

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

threshold-free cluster enhancement · 0.3mass univariate regression · 0.3false discovery rate control · 0.3
YearPublicationVenuePosition
2018 Three-dimensional cardiovascular imaging-genetics: a mass univariate framework
abstract
Motivation: Left ventricular (LV) hypertrophy is a strong predictor of cardiovascular outcomes, but its genetic regulation remains largely unexplained. Conventional phenotyping relies on manual calculation of LV mass and wall thickness, but advanced cardiac image analysis presents an opportunity for high-throughput mapping of genotype-phenotype associations in three dimensions (3D). Results: High-resolution cardiac magnetic resonance images were automatically segmented in 1124 healthy volunteers to create a 3D shape model of the heart. Mass univariate regression was used to plot a 3D effect-size map for the association between wall thickness and a set of predictors at each vertex in the mesh. The vertices where a significant effect exists were determined by applying threshold-free cluster enhancement to boost areas of signal with spatial contiguity. Experiments on simulated phenotypic signals and SNP replication show that this approach offers a substantial gain in statistical power for cardiac genotype-phenotype associations while providing good control of the false discovery rate. This framework models the effects of genetic variation throughout the heart and can be automatically applied to large population cohorts. Availability and implementation: The proposed approach has been coded in an R package freely available at https://doi.org/10.5281/zenodo.834610 together with the clinical data used in this work. Contact: [email protected]. Supplementary information: Supplementary data are available at Bioinformatics online.
Carlo Biffi, Antonio M. Simoes Monteiro de Marvao, Mark I Attard, Timothy Dawes, Nicola Whiffin, Wenjia Bai, Wenzhe Shi, Catherine Francis, Hannah Meyer, Rachel J. Buchan, Stuart A. Cook, Daniel Rueckert, Declan P. O'Regan
Bioinform.10