Complex Genetics Cardiac Diseases
Complex Genetics Cardiac Diseases
Research Topics uitklapper, klik om te openen
Our research focuses on the genetic mechanisms of complex cardiac diseases and their related traits, including heart failure, cardiomyopathies, heart transplantation outcomes, and electrocardiogram (ECG) and cardiac MRI (CMR) measures. We aim to identify and validate genetic variants and genes that cause cardiac diseases through large-scale association studies such as genome-wide association studies, Loss-of-Function analyses, and polygenic risk score analyses, followed by in silico and in vitro functional follow-up.
Key Publications uitklapper, klik om te openen
- van Setten J et al. PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity. Nat Commun 2018
- Hemerich D et al. Integrative Functional Annotation of 52 Genetic Loci Influencing Myocardial Mass Identifies Candidate Regulatory Variants and Target Genes. Circ Genom Precis Med 2019
- van Setten J et al. Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits. Eur J Hum Genet 2019
- Alasiri A et al. LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants. BioRxiv 2021
Facilities Involved uitklapper, klik om te openen
UK Biobank,
UCORBIO,
CTMM,
SMART,
BioSHiFT
TRIUMPH
Utrecht Heart Transplant Genetic Study (UHTGS)
UNRAVEL
Software uitklapper, klik om te openen
Loss-of-Function ToolKit: https://github.com/CirculatoryHealth/LoFTK
Genomic plotting Toolkit: https://gitlab.com/cfinan/skyline
QTLToolKit: https://github.com/swvanderlaan/QTLToolKit
MetaGWASToolKit: https://github.com/swvanderlaan/MetaGWASToolKit
GWASToolKit: https://github.com/swvanderlaan/GWASToolKit
slideToolKit: https://github.com/swvanderlaan/slideToolKit
PRSToolKit: https://github.com/swvanderlaan/PRSToolKit
HercultesToolKit: https://github.com/swvanderlaan/HerculesToolKit
People Involved uitklapper, klik om te openen
Chris Finan, Abdul Alasiri, Arjan Cupido, Christian Gross
Contact uitklapper, klik om te openen
Jessica van Setten