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Penn Bioinformatics Forum – Melissa Gymrek, PhD
November 28 @ 3:00 pm - 4:30 pm
Melissa Gymrek, Ph.D.
Assistant Professor of Computer Science and Engineering, Medicine
University of California San Diego
Dissecting the contribution of repetitive genetic variation to human traits
Recent studies have made substantial progress in identifying genetic variants associated with disease and molecular phenotypes in humans. However, these studies have primarily focused on single nucleotide polymorphisms (SNPs), ignoring more complex variants that have been shown to play important functional roles. Here, I focus on short tandem repeats (STRs), one of the most polymorphic and abundant classes of genetic variation. First I will discuss challenges and solutions for genotyping STRs from whole-genome sequencing datasets in large cohorts of individuals. I will then show how we used this catalog to conduct a genome-wide analysis of the contribution of STRs to gene expression in humans (“eSTRs”). This survey revealed that thousands of STRs contribute to gene regulation, likely through a diverse variety of mechanisms. Finally, I will discuss preliminary analyses incorporating functional genomics data with high quality complex variant genotypes to identify eSTRs likely driving genome-wide association signals for common human diseases.
Reception to follow.