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Stochastics and Statistics Seminar

Prioritizing genes from genome-wide association studies

April 23, 2021 @ 11:00 am - 12:00 pm

Hilary Finucane, Broad Institute


Abstract: Prioritizing likely causal genes from genome-wide association studies (GWAS) 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. I will conclude by giving examples of prioritized genes.
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. She holds a BA from Harvard College in mathematics, an MSc from the Weizmann Institute of Science in theoretical computer science, and a PhD from MIT in applied mathematics. She did her PhD research in statistical genetics in the lab of Alkes Price, funded by a Hertz Foundation Fellowship, after which she started a research group at the Broad Institute as a Schmidt Fellow. She is also a recipient of the NIH Director’s Early Independence Award.

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