Design and Analysis of Genetic-based Association Studies

This residential workshop aims to give researchers involved in disease studies a firm grounding in the use of the latest statistical methods and software for analysis of genetic association studies. The course will cover both theoretical and practical aspects of the design and analysis of such studies. Each topic will include a lecture followed by a practical session in which state-of-the-art statistical software will be applied to relevant datasets. The practical sessions will illustrate the ideas presented in the lectures. All the software used will be freely available so skills learnt can be applied to the datasets after the course.

Introduction to genetic association studies
Overview and history of genetic association studies leading up to and including genome-wide association studies.

Study design
Study design for genome-wide association studies (commercially available chips, pros and cons) and power calculations. Design of candidate gene studies via tagging and description of different genotyping technologies.

Basic association analysis
Single marker association tests including Frequentist and Bayesian tests for association. Models of association. Gene-environment and gene-gene interaction.

Quality control and population structure
Data quality control procedures to avoid the generation of spurious false positives in association studies. The confounding effects of population structure on association studies and methods for protecting against these effects. PCA and mixed model approaches.

Haplotype estimation
Inferring haplotypes from genotype data using Bayesian and Frequentist methods of haplotype inference. The use of haplotypes in genetic association studies for detection of disease variants.

Genotype imputation
Methods for genotype imputation using publicly available reference panels. Pre-phasing based imputation. Frequentist and Bayesian methods of testing association at imputed SNPs and indels. Quality control for imputed SNPs. Meta-analysis using imputed data.

Family-based association studies
Testing for association using family-based study designs. Comparison with designs that use unrelated individuals.
+ show speakers and program
Heather Cordell (Institute of Genetic Medicine, Newcastle University, UK)
Andrew Morris (Wellcome Trust Centre for Human Genetics, University of Oxford, UK)
Jonathan Marchini (Department of Statistics, University of Oxford, UK)
2012 Guest speakers

Gilean McVean (Wellcome Trust Centre for Human Genetics, Oxford, UK)
Nicole Soranzo (Wellcome Trust Sanger Institute, UK)

24 Sep - 28 Sep 2012
cambridge
United Kingdom
meeting website