Human Complex Genetics

This course provides an introduction into the field of complex genetics. Also referred to as population genetics; generating large-scale genetic datasets and then answering relevant biological or clinical questions. The course is split in four contact days and and exam:

Day 1: Introduction to complex genetics and genome-wide association studies (genetic variation, genome-wide association studies - GWAS, applications of complex genetics).

Day 2: Biological interpretation of GWAS results (functional interpretation of genetic variants, gene regulation).

Day 3: Clinical application of GWAS results (disease risk prediction, polygenic risk scores, clinical decision-making).

Day 4: Discussion of assignments; practical examples performed in groups or extracted from literature.

Through these topics the course covers the basics of performing complex genetic studies, as well as some of the most common and currently utilized applications.

1. The assessment consists of a pass/fail group assignment and presentation due in week 4 of the course. In week 5, an open-question exam based on the assignment will be done individually, and this makes up for 100% of the final grade (assuming you passed the group assignment). The written exam will be held on-site using the ANS digital platform.

2. The resit consists of a similar written exam, five weeks after the initial exam, again on-site using the ANS platform, with open questions. Both the exam and the resit are open-book. There is no resit for the assignment.

3. Registration for exams is done via: OSIRIS. Students needing to turn work in late due to personal circumstances must contact the Academic Counsellor prior to turning it in to make arrangements. Other late work might not be graded. Circumstances related to the group assignment (illness, scheduling conflicts, etc) should be discussed with the course coordinator to find alternative ways to complete the work (e.g., extra individual work, or alignment with the group that sufficient contribution is made),