Relevance of multi-omics studies in cardiovascular diseases
P Leon-Mimila, J Wang… - Frontiers in cardiovascular …, 2019 - frontiersin.org
Cardiovascular diseases are the leading cause of death around the world. Despite the
larger number of genes and loci identified, the precise mechanisms by which these genes …
larger number of genes and loci identified, the precise mechanisms by which these genes …
Genomic enhancers in cardiac development and disease
CG Anene-Nzelu, MCJ Lee, WLW Tan… - Nature Reviews …, 2022 - nature.com
Abstract The Human Genome Project marked a major milestone in the scientific community
as it unravelled the~ 3 billion bases that are central to crucial aspects of human life. Despite …
as it unravelled the~ 3 billion bases that are central to crucial aspects of human life. Despite …
Genome-wide enhancer-associated tandem repeats are expanded in cardiomyopathy
Background Cardiomyopathy is a clinically and genetically heterogeneous heart condition
that can lead to heart failure and sudden cardiac death in childhood. While it has a strong …
that can lead to heart failure and sudden cardiac death in childhood. While it has a strong …
Mapping genomic regulation of kidney disease and traits through high-resolution and interpretable eQTLs
Expression quantitative trait locus (eQTL) studies illuminate genomic variants that regulate
specific genes and contribute to fine-mapped loci discovered via genome-wide association …
specific genes and contribute to fine-mapped loci discovered via genome-wide association …
An atlas of transcribed human cardiac promoters and enhancers reveals an important role of regulatory elements in heart failure
A deeper knowledge of the dynamic transcriptional activity of promoters and enhancers is
needed to improve mechanistic understanding of the pathogenesis of heart failure and heart …
needed to improve mechanistic understanding of the pathogenesis of heart failure and heart …
Variants in a cis-regulatory element of TBX1 in conotruncal heart defect patients impair GATA6-mediated transactivation
X Jiang, T Li, S Liu, Q Fu, F Li, S Chen, K Sun… - Orphanet Journal of …, 2021 - Springer
Background TBX1 (T-box transcription factor 1) is a major candidate gene that likely
contributes to the etiology of velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) …
contributes to the etiology of velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) …
Enhancer predictions and genome-wide regulatory circuits
Spatiotemporal control of gene expression during development requires orchestrated
activities of numerous enhancers, which are cis-regulatory DNA sequences that, when …
activities of numerous enhancers, which are cis-regulatory DNA sequences that, when …
Allele-specific binding variants causing ChIP-seq peak height of histone modification are not enriched in expression QTL annotations
Background Genome sequence variants affecting complex traits (quantitative trait loci, QTL)
are enriched in functional regions of the genome, such as those marked by certain histone …
are enriched in functional regions of the genome, such as those marked by certain histone …
Artificial intelligence for cardiac imaging-genetics research
Cardiovascular conditions remain the leading cause of mortality and morbidity worldwide,
with genotype being a significant influence on disease risk. Cardiac imaging-genetics aims …
with genotype being a significant influence on disease risk. Cardiac imaging-genetics aims …
Multiple SCN5A variant enhancers modulate its cardiac gene expression and the QT interval
The rationale for genome-wide association study (GWAS) results is sequence variation in cis-
regulatory elements (CREs) modulating a target gene's expression as the major cause of …
regulatory elements (CREs) modulating a target gene's expression as the major cause of …