Book Image

Bioinformatics with Python Cookbook - Second Edition

By : Tiago Antao
Book Image

Bioinformatics with Python Cookbook - Second Edition

By: Tiago Antao

Overview of this book

Bioinformatics is an active research field that uses a range of simple-to-advanced computations to extract valuable information from biological data. This book covers next-generation sequencing, genomics, metagenomics, population genetics, phylogenetics, and proteomics. You'll learn modern programming techniques to analyze large amounts of biological data. With the help of real-world examples, you'll convert, analyze, and visualize datasets using various Python tools and libraries. This book will help you get a better understanding of working with a Galaxy server, which is the most widely used bioinformatics web-based pipeline system. This updated edition also includes advanced next-generation sequencing filtering techniques. You'll also explore topics such as SNP discovery using statistical approaches under high-performance computing frameworks such as Dask and Spark. By the end of this book, you'll be able to use and implement modern programming techniques and frameworks to deal with the ever-increasing deluge of bioinformatics data.
Table of Contents (16 chapters)
Title Page
About Packt
Contributors
Preface
Index

Preparing the dataset for analysis


Our starting point will be a VCF file (or equivalent), with calls made by a genotyper (Genome Analysis Toolkit (GATK) in our case), including the annotations. As we will be filtering NGS data, we need reliable decision criteria to call a site. So, how do we get that information? Generally, we can't, but if we need to do it, there are three basic approaches:

  • Using a more robust sequencing technology for comparison; for example, using Sanger sequencing to verify NGS datasets. This is cost-prohibitive and can only be done for a few loci.
  • Sequencing closely related individuals, for example, two parents and their offspring. In this case, we use Mendelian inheritance rules to devise if a certain call is acceptable or not. This was the strategy used by both the human and Anopheles 1,000 Genomes Projects.
  • Finally, we can use simulations. This setup is not only quite complex, but also of dubious reliability. It's more of a theoretical option.

In this chapter, we will...