2022 Friedmund Neumann Prize laureate Dr. Sarah Kim-Hellmuth:
"Understanding the Diversity of Genetic Effects on Gene Expression in Health and Disease"
Over the past 17 years, genome-wide association studies have identified thousands of genetic variants robustly associated with complex traits and diseases. Characterizing cell type- and 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 consortium, which has built the most comprehensive atlas to date of expression and splicing quantitative trait loci in cis (cis-QTLs) 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 age-specificity of cis-QTLs at an unprecedented breadth and depth. Taking into account this context-specificity of cis-QTLs significantly improves our understanding of the underlying mechanism of genetic risk to disease, which can ultimately inform management of disease risk and treatment.
