Genome-wide association studies (GWAS) constitute a powerful approach to investigate the genetic basis of complex traits and disorders. The course consists of lectures that provide a conceptual framework for crucial aspects of genetic association, including linkage disequilibrium, sample and genotype quality control, strategies to detect and correct for genetic relatedness and population stratification, genotype imputation, meta-analysis, and genomic annotation of GWAS signals. An overview of the most frequently used command line instructions will be taught in hands-on computer exercises using the program PLINK and the web tools LD-LINK & FUMA, illustrating the principles of analysing quantitative and disease traits. Interpretation of the output from large GWAS and meta-analyses will be followed by an overview of downstream functional analysis and translational genomic applications, including fine-mapping, colocalization, pleiotropy, gene-drug target characterisation, and polygenic risk score analysis. The course format will include interactive breakout discussion sessions on the theoretical and practical aspects of running GWAS, together with expert advice and procurement support for diverse components of collaborative research within networks and consortia.

Objectives

• This course aims to train participants in the basic principles of running, interpreting and following-up genome-wide association studies (GWAS).

• After completing the course, participants will be able to understand the principles of the GWAS approach; perform simple GWAS analyses using PLINK2; get acquainted with command lines and options for different advanced software; interpret GWAS results; and integrate them in translational genomics applications.

Participant profile

Clinical researchers, clinical epidemiologists, molecular biologists, bioinformaticians and biostatisticians aspiring to run basic analyses of genome-wide association studies.

Assessment