Introduction

Learning outcomes

After having completed this chapter you will be able to:

• Describe the importance of studying variants
• Define a DNA mutation
• Illustrate the difference between a somatic mutation and a germline mutation
• Describe the two major types of small variants: SNPs and INDELs
• Explain why SNPs are the most used type of variant for genetic research
• Explain what haplotypes are and how they can capture more genetic information compared to single small variants

Material

Course introduction:

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Introduction to variant analysis:

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Questions & Answers