Moving from GWAS hits to functional variants by Prof. Steve Humphries University College London, UK

A 50-minute multimedia lecture titled "Moving from GWAS Hits to Functional Variants" by Prof. Steve Humphries from University College London, UK, provides a comprehensive overview of the process involved in translating Genome-Wide Association Study (GWAS) hits into functional genetic variants. The Lecture covers topics such as the candidate gene approach, progress in GWAS hits, genome-wide scans using case-control approaches, and the replication of findings in larger samples.Prof. Steve Humphries also discusses the use of Manhattan plots to visualize GWAS data, specific genetic loci associated with coronary heart disease (CHD) and lipid traits, and the limitations of current GWAS methodologies. Furthermore, Prof. Steve Humphries delves into the IMPROVE study on carotid intima-media thickness (cIMT) and the stages involved in moving from GWAS hits to functional variants, including bioinformatics analysis, electrophoretic mobility shift assays (EMSA), luciferase reporter assays, and the identification of potential mechanisms underlying genetic effects. The lecture concludes with insights into the role of the BCAR1 gene in cIMT and cardiovascular disease (CVD) based on protein structure analysis