Dissecting the genetic and phenotypic architecture of cardiovascular disease
The major aim of this proposal is to use the genetic data produced by the UK BioBank to investigate key questions related to the genetic and phenotypic architecture of cardiovascular disease. We have a particular interest in studying whether these diseases are comprised of a discrete subset of disease entities. The UK BioBank?s stated purpose is to improve the prevention, diagnosis and treatment of a wide range of illnesses ? including cancer, heart diseases, stroke, diabetes, arthritis, osteoporosis, eye disorders, depression and forms of dementia. Our proposal aims to examine genetic and phenotypic links both within cardiovascular disease and across different traits and diseases. By examining these links, we hope to translate key findings into clinical utility, ultimately leading to advances in the diagnosis, prediction, and treatment of cardiovascular diseases. We will identify participants of the UK BioBank who have coronary artery disease (CAD) and those without. We will compare the genetics of cases and controls and test if genetic variants are associated with these disease. We will use environmental and lifestyle information to define subsets of these diseases. We will also combine genetic, clinical, environmental and lifestyle information to examine genetic links between CAD and other diseases. Finally, we examine the evolutionary and functional properties of genetic loci for CAD The full cohort will be used for our research studies.
Scope extension: Additionally, we plan to use machine learning approaches using clinical features from the electronic health record, health questionnaire data, to evaluate the genetic contributors of human disease, including interplay of rare and common variants, disease prediction, and how they are connected to each other.