Seminars Details


Virtual Seminar: Understanding genetic effects on gene expression in health and disease

Sarah Kim-Hellmuth; Institute of Translational Genomics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Dr. von Hauner Children’s Hospital, Department of Pediatrics, University Hospital, LMU Munich, Germany

Over the past 16 years, genome-wide association studies (GWAS) have identified thousands of genetic variants robustly associated with complex traits and diseases. Characterizing cell typeand context-specific effects of genetic variants is crucial for understanding biological processes that underlie these genetic associations to disease. One approach to address this challenge is to map genetic effects on the transcriptome across numerous conditions. In this talk, I will discuss our work within the Genotype-Tissue Expression (GTEx) consortium, which has built the most comprehensive atlas to date of expression quantitative trait loci (cis-eQTLs) across human tissues. Using RNA-sequencing data from 17,382 samples across 49 tissues of 838 individuals with genome sequencing data, we gain insights into the tissue-, cell type-, sex- and agespecificity of cis-eQTLs at an unprecedented breadth and depth. Taking into account this context-specificity of cis-eQTLs significantly improves our understanding of the underlying mechanism of genetic risk to disease, which can ultimately inform management of disease risk and treatment.

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