Genetic epidemiology and genome-wide association analyses

Postgraduate course

Course description

Objectives and Content

The first part of the course will provide a broad overview of genetic epidemiology and statistical genetics, including biometrical genetics such as twin studies, topics from population genetics, as well as linkage versus linkage disequilibrium, risk and penetrance models, and gene-environment interactions.

The second part will cover genetic association analyses in detail: Power and sample size calculations, choice of design (independent versus family designs); basic case-control association analyses, family-based association analyses; testing and measuring gene-environment interactions; haplotype analyses; post-processing and interpretation of results. Control for multiple testing.

The course will use freely available software, including PLINK, GenABEL (in R), HapMap/HaploView, and Haplin (in R).

Learning Outcomes

On completion of the course the student should have the following learning outcomes:


Familiarity with fundamental aspects of genetic epidemiology. Basic understanding of selected topics in population genetics and biometrical genetics. Knowledge of common statistical methods and study designs in genetic epidemiology.


Be able to use software to conduct full genetic association analyses, including data quality control, analyses, interpretation of results, and post-processing/presentation of results.

General competence:

To acquire the tools and understanding to plan and conduct genetic association analyses.

Level of Study

Master / PhD

Semester of Instruction

Recommended Previous Knowledge
Basic understanding of genetic principles. Experience with regression models, including logistic regression and time-to-event models. Experience with the R software and some previous experience with genetic association analyses will be an advantage.
Teaching and learning methods

40 hours (1 week), lectures combined with group work/hands-on exercises

40 hours (1 week), take-home project

Compulsory Assignments and Attendance
Compulsory attendance at lectures. Return of take-home project assignment two weeks after end of lectures.
Forms of Assessment
The take-home project assigment will cover the majority of topics presented and discussed in the lectures. It will amount approximately to one week of full-time work, and should be handed in within two weeks after the end of the lecture week.
Grading Scale
Reading List

A Statistical Approach to Genetic Epidemiology- Concepts and Applications (Second Edition)

by Andreas Ziegler and Inke R. König. Wiley, 2010.

Chapters 10-14 (140 pages)

+ parts of introductory chapters

In addition, relevant research papers and software manuals, as needed.

Course Evaluation
Short, written evaluation on the last regular lecture day.