Join us for the next instalment of the STAGE International Speaker Seminar Series (ISSS) with
Gil McVean
Professor of Statistical Genetics
University of Oxford
Director, Oxford’s Big Data Institute
Talk Title:
Mapping the structure of genetic risk for common disease in the UK Biobank
Abstract:
Genetic risk factors frequently affect multiple common human diseases, providing insight into shared pathophysiological pathways and opportunities for therapeutic development. However, systematic identification of genetic profiles of disease risk is limited by the availability of both comprehensive clinical data on population-scale cohorts and the lack of suitable statistical methodology that can handle the scale of and differential power inherent in multi-phenotype data. We have developed a disease-agnostic approach to cluster genetic risk profiles for 3,025 genome-wide independent loci across 19,155 ICD-10 diagnostic codes from 320,644 participants in the UK Biobank, representing a large and heterogeneous population. We identify several hundred distinct disease association profiles and use multiple approaches to link clusters to underlying biological pathways. We show how clusters can decompose the variance and covariance in risk for disease, thereby identifying underlying biological processes and their impact. We demonstrate the use of clusters in defining disease relationships and informing therapeutic strategies.
Speaker Profile:
Professor McVean’s research focuses on understanding the molecular and evolutionary processes that shape genetic variation in populations and the relationship between genetic variation and phenotype. He played leading roles in international collaborations to characterize genomic variation, such as the 1000 Genomes Project, helped uncover remarkable processes that drive recombination and mutation in humans, and worked with multidisciplinary teams to discover and characteristic the mechanisms behind genetic drivers of risk to complex disease. He was the founding director of Oxford’s Big Data Institute, is co-founder of the Oxford spinout company, Genomics, and is President of the UK’s Genetics Society.
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