Bioinformatics with Python Cookbook - Fourth Edition

6

Annotation and Biological Interpretation

In this chapter, we will discuss how the results of bioinformatics analysis affect biology. We will first look at how to parse and use the variant calls we arrived at in Chapter 5. We will better understand the Variant Call Format (VCF) and how to parse it. Next, we will learn how to annotate the genes in a genome, using a simple prokaryote (a single-cell organism) as an example. Then, we’ll learn about how gene structures impact the meaning of a variant. Finally, we’ll explore how proteins are annotated and the importance of protein domains.

By the end of this chapter, you’ll understand how to work with variant call files and interpret their contents. You will have learned how to annotate genomes and, ...