Unsupervised ensemble-based phenotyping helps enhance the discoverability of genes related to heart morphology
R Bonazzola, E Ferrante, N Ravikumar, Y Xia… - arXiv preprint arXiv …, 2023 - arxiv.org
Recent genome-wide association studies (GWAS) have been successful in identifying
associations between genetic variants and simple cardiac parameters derived from cardiac …
associations between genetic variants and simple cardiac parameters derived from cardiac …
Unsupervised ensemble-based phenotyping enhances discoverability of genes related to left-ventricular morphology
R Bonazzola, E Ferrante, N Ravikumar, Y Xia… - Nature Machine …, 2024 - nature.com
Recent genome-wide association studies have successfully identified associations between
genetic variants and simple cardiac morphological parameters derived from cardiac …
genetic variants and simple cardiac morphological parameters derived from cardiac …
Three-dimensional cardiovascular imaging-genetics: a mass univariate framework
Motivation Left ventricular (LV) hypertrophy is a strong predictor of cardiovascular outcomes,
but its genetic regulation remains largely unexplained. Conventional phenotyping relies on …
but its genetic regulation remains largely unexplained. Conventional phenotyping relies on …
Image-derived phenotype extraction for genetic discovery via unsupervised deep learning in CMR images
Prospective studies with linked image and genetic data, such as the UK Biobank (UKB),
provide an unprecedented opportunity to extract knowledge on the genetic basis of image …
provide an unprecedented opportunity to extract knowledge on the genetic basis of image …
[HTML][HTML] Genome wide association analysis of the heart using high-resolution 3D cardiac MRI identifies new genetic loci underlying cardiac structure and function
Background Human physiology and disease are defined by complex interactions between
genetic and environmental factors. While genome-wide association studies (GWASs) have …
genetic and environmental factors. While genome-wide association studies (GWASs) have …
Genome-wide analysis of left ventricular image-derived phenotypes identifies fourteen loci associated with cardiac morphogenesis and heart failure development
Background: The genetic basis of left ventricular (LV) image-derived phenotypes, which play
a vital role in the diagnosis, management, and risk stratification of cardiovascular diseases …
a vital role in the diagnosis, management, and risk stratification of cardiovascular diseases …
Genome-wide array analysis of normal and malformed human hearts
Background—We present the first genome-wide cDNA array analysis of human congenitally
malformed hearts and attempted to partially elucidate these complex phenotypes. Most …
malformed hearts and attempted to partially elucidate these complex phenotypes. Most …
ATLAS OF RISK FACTORS AND CARDIAC MORPHOLOGICAL TRAITS USING DEEP LEARNING AND MENDELIAN RANDOMIZATION
Background Causal associations between cardiac imaging traits and cardiovascular
disease are not well established. Machine learning approaches enable the segmentation of …
disease are not well established. Machine learning approaches enable the segmentation of …
[HTML][HTML] Epistasis regulates genetic control of cardiac hypertrophy
The combinatorial effect of genetic variants is often assumed to be additive. Although
genetic variation can clearly interact non-additively, methods to uncover epistatic …
genetic variation can clearly interact non-additively, methods to uncover epistatic …
Deep representation learning of electrocardiogram reveals novel insights in cardiac structure and functions and connections to cardiovascular diseases
MW Yeung, R van de Leur, JW Benjamins, MB Vessies… - medRxiv, 2023 - medrxiv.org
Background Conventional approaches to analysing electrocardiograms (ECG) in
fragmented parameters (such as the PR interval) ignored the high dimensionality of data …
fragmented parameters (such as the PR interval) ignored the high dimensionality of data …