Human genetic variation (I): an introduction


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 the 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. 

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

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

An undergraduate understanding of biology would be an advantage.

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