This course includes both lectures and tutorials around the management and analysis of genomic data in clinical research and care. Participants are led through the basics of genome-wide association studies (GWAS), genotypes, and polygenic risk scores, as well as novel concepts and tools for more sophisticated consideration of population stratification in GWAS. Additionally, the course offers two tutorials on open source tools for dealing with such genomic data, including PLINK and PRSice.
Fundamental Methods for Genomic Analysis
This lesson describes the fundamentals of genomics, from central dogma to design and implementation of GWAS, to the computation, analysis, and interpretation of polygenic risk scores.
This is a hands-on tutorial on PLINK, the open source whole genome association analysis toolset. The aims of this tutorial are to teach users how to perform basic quality control on genetic datasets, as well as to identify and understand GWAS summary statistics.
This is a tutorial on using the open-source software PRSice to calculate a set of polygenic risk scores (PRS) for a study sample. Users will also learn how to read PRS into R, visualize distributions, and perform basic association analyses.
This lesson contains the slides (pptx) of a lecture discussing the necessary concepts and tools for taking into account population stratification and admixture in the context of genome-wide association studies (GWAS). The free-access software Tractor and its advantages in GWAS are also discussed.