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Workshop in Biostatistics - presents "Interpreting complex disease genetics using epigenomics"

Topic: 
Interpreting complex disease genetics using epigenomics
Thursday, February 20, 2020 - 1:30pm
Venue: 
Medical School Office Building (MSOB), Rm x303
Speaker: 
Prof. Kyle Gaulton (UC San Diego)
Abstract / Description: 

Determining the regulatory activity of non-coding genetic variants in specific cell types and cellular contexts is key to understanding the genetic basis of complex disease. In our work we profile the epigenome and annotate the function of disease risk variants using high-throughput molecular assays in combination with statistical approaches including those developed in our lab. I will describe several recent studies where we have used epigenomics to interpret the genetics of complex disease. First, we have mapped regulatory programs of cell types in the human pancreas and numerous other tissues using single cell accessible chromatin, from which we derived disease-relevant cell types and inferred cell type-specific regulatory programs of fine-mapped diabetes and other complex disease risk variants. Second, we annotated regulatory variants at diabetes risk loci by combining high-throughput, allele-specific binding assays of hundreds of TFs with accessible chromatin and dense fine-mapping data. Third, using a novel approach for estimating allelic imbalance we identified disease variants with allelic effects on TF binding and accessible chromatin generated from cells exposed to different in vitro stimuli. Together these studies represent examples of how mapping the epigenome can provide the cell type- and context-specific regulatory activity of non-coding variants and reveal their contribution to disease.


The Workshop is held from 1:30-2:50pm in Medical School Office Building (MSOB), Rm x303, 1265 Welch Road, Stanford, unless otherwise specified on the calendar at the link below.