Biostatistics guest speaker, Jenna Carlson, University of Pittsburgh, will present, "Population-Specific Reference Panels and Genetic Association Studies in Sāmoans."
Genome-wide association studies (GWAS) in isolated populations like Sāmoans have furthered the understanding of human biology, including the genetic architecture of complex traits. Genetic imputation has become standard practice in GWAS; however, existing imputation panels – the basis on which imputation is performed – are not designed to adequately capture genetic variation in isolated populations. For accurate imputation in these populations, existing imputation reference panels need to be expanded to include haplotypes derived from population-specific whole-genome sequencing (WGS) data. In this talk, I will explain the importance of population-specific reference panels in genotype imputation and describe how I created a Sāmoan-specific reference panel derived from WGS of 1,195 Sāmoans. I will illustrate how we used this reference panel to impute genetic markers genome-wide and conduct association analyses with numerous phenotypes. I will also demonstrate teaching logistic regression to introductory graduate students with a case study from this research: the genetics of obesity in Sāmoans.