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The complex and cascading impact of regulatory variation

Banff International Research Station for Mathematical Innovation and Discovery

Regulatory genetic variation is believed to play a significant role in human disease, but while we have identified thousands of variants affecting mRNA levels, we do not yet fully understand their downstream consequences or the factors that affect their impact. In recent work, we have evaluated the modulation of genetic effects by common environmental and behavioral risk factors, such as substance use, using novel models of allele-specific expression. Additionally, we are currently developing integrated machine learning methods to identify non-coding variants likely to have large effects on the cell and higher-level phenotypes. Together, the methods we are developing will help characterize the complex consequences of regulatory variation.

Mathematics; Statistics; Biology and other natural sciences

video/mp4

Author affiliation: Johns Hopkins University

2016-04-20

Attribution-NonCommercial-NoDerivatives 4.0 International

http://hdl.handle.net/2429/57708

Unreviewed

http://creativecommons.org/licenses/by-nc-nd/4.0/