Presenter: Stephen Montgomery, PhD
Departments of Pathology and Genetics
Talk Title and Abstract
“Common and rare regulatory variation in genetic disease”
Every gene’s expression is impacted by genetic variation. This talk will describe how large-scale maps of genetic variant effects on genome function are helping to identify the molecular mechanisms of genetic diseases. It will cover approaches for connecting complex disease associated variants to molecular mechanisms. It will also describe recent approaches to identify large-effect rare variants impacting rare and common diseases.
3 Learning objectives:
• Understanding of expression quantitative trait data
• Understanding of functional genomic approaches to interpret rare diseases
• Understanding of polygenic risk scores
Stephen Montgomery conducted his Ph.D. in genetics at UBC. Following his PhD, Dr. Montgomery worked as a post-doctoral researcher at the Wellcome Trust Sanger Institute in Hinxton, UK and the University of Geneva in Switzerland. In 2011, he accepted a faculty position in the Departments of Genetics, Pathology and, by courtesy, Computer Science at Stanford University. In this time, he has helped lead or contributed to multiple large-scale genomics and functional genomics projects including GTEx, UDN, TOPMed and MoTrPAC.