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December 07, 2020
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Population-Scale Single-Cell eQTL Mapping Identifies Cell Type-Specific Control of Disease


Associate Professor, Director, Garvan-Weizmann Centre for Cellular Genomics

The human immune system displays remarkable variation between individuals, which itself leads to differences in how individuals respond to pathogens and their susceptibility to disease. However, knowledge of how genetic differences contribute to this variation at the level of individual immune cell types has been limited. This is due to the challenges of generating data from a large number of cells in large numbers of individuals, which is required to address these questions. 

This presentation with cover both conceptional and practical challenges in generating and analyzing population-scale single-cell data. It will include a discussion of results from the OneK1K project, which is analyzing 1,000 cells from 1,000 people, with a focus on identifying single-cell expression quantitative trait loci (eQTL) and their role in contributing to disease risk. 

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