Tutorial: Genome-wide Association Studies
| Owing to advances in genotyping and sequencing
technologies and the successes of a number of international
collaborative projects, there is a considerable interest in genetic
study of complex traits which include common diseases and other
quantitative measurements. The current focus has been genome-wide
association studies (GWAS) which involve a large number of individuals
each with data from GeneChip containing 10,000~1,000,000 single
nucleotide polymorphisms (SNPs), the most abundant genetic variants in
The tutorial begins with some fundamental concepts and methods which naturally lead to GWAS, to be followed by their study designs and statistical analysis. This ranges from quality controls and descriptive analysis to assessing genotype-phenotype relationship and inference of pathways. Genotype imputation, meta-analysis and graphical presentation will be illustrated with case studies involving population-based and family-based samples. Publicly available projects, such as HapMap and dbGaP, will also be introduced. The tutorial and materials will enable the participants become familiar with the computational and statistical problems, popular specialized software and relevant packages in R, e.g., genetics, haplo.stats, gap, kinship, as with packages designed for GWAS such as GenABEL, snpMatrix and SNPassoc.
The tutorial is derived from considerable theoretical and practical work in statistical genetics and genetic epidemiology, especially from design and analysis for GWAS in several large epidemiological cohorts and consortium work.