Human genetic variation (I): an introduction


Course overview

Genetic variation is fundamental to the evolution of all species and is what makes us individuals. Our genes have a large influence on our lives. They affect what we look like, our personalities and preferences and our susceptibility to disease. By studying genetic variation we hope to understand the molecular process that contribute to life on earth.

The study of genetic variation has been used to model human migration, understand cause of human diseases, and to predict disease outcomes.

This is part I of our course on human genetic variation. In this part of the course we introduce some key concepts in the field of human genetic variation including the types of variants, variant effects and genetic variation studies using different learning techniques including images, videos and games. 

The courses focus on heritable (germline) variation and will give you a taste of the resources you can use to explore genetic variation data.

Following part I of this course

In part II of this course we will learn how to explore publicly available genetic variation data.


An undergraduate knowledge of biology would be an advantage.

About this course

Learning objectives: 
  • Review sources of genetic variation
  • Describe the possible effects of genetic variation
  • Identify common genetic variation file types and formats
  • Describe types of genetic variation studies