Prioritizing likely causal genes from GWAS data is a fundamental problem. There are many methods for GWAS gene prioritization, including methods that map candidate SNPs to their target genes, and methods that leverage patterns of enrichment from across the genome. In this talk, I will introduce a new method for leveraging genome-wide patterns of enrichment to prioritize genes at GWAS loci, incorporating information about genes from many sources. I will then discuss the problem of benchmarking gene prioritization methods, and I will describe a large-scale analysis to benchmark many different methods and combinations of methods on data from the UK Biobank. Our analyses show that the highest confidence can be achieved by combining multiple lines of evidence, and I will conclude by giving examples of genes prioritized in this way.
Contact Katie Kanagawa for Zoom dial-in details. (email@example.com)
Bio: Hilary Finucane is a faculty member at Harvard Medical School and Massachusetts General Hospital and the co-director of the Medical and Population Genetics Program at
the Broad Institute of MIT and Harvard.
- 10 Years of GWAS Discovery: Biology, Function, and Translation