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PQG Seminar
February 8, 2022 @ 1:00 pm - 2:00 pm
Assistant Professor, Medicine
UC San Diego
Polymorphic short tandem repeats make widespread contributions to complex 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 briefly discuss challenges and solutions for analysis of STR-phenotype associations in large cohorts. Then, I will describe how we used population-wide catalogs of STR variation to identify hundreds of polymorphic STRs associated with complex traits. Finally, I will discuss specific STRs predicted to be causal drivers of some of the strongest known GWAS signals for blood traits and biomarkers in the UK Biobank.
