Analysis of Genome-wide Association Studies [ESP74]

Detailed information about this course:

Description

Faculty: Prof. Fernando Rivadeneira, MD PhD, Katerina Trajanoska, MD PhD and others

Genome-wide association studies (GWAS) constitute a powerful approach to investigate the genetic basis of complex traits and disorders. The course consists of lectures providing a conceptual framework on crucial aspects of genetic association like linkage disequilibrium, haplotype analysis, 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 PLINK2 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 allow interactive break-out discussion sessions on theoretical and practical aspects of running GWAS, together with expert advice procurement on 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

Attendance