Book Image

Bioinformatics with Python Cookbook - Third Edition

By : Tiago Antao
Book Image

Bioinformatics with Python Cookbook - Third 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, and this book will show you how to manage these tasks using Python. This updated third edition of the Bioinformatics with Python Cookbook begins with a quick overview of the various tools and libraries in the Python ecosystem that will help you convert, analyze, and visualize biological datasets. Next, you'll cover key techniques for next-generation sequencing, single-cell analysis, genomics, metagenomics, population genetics, phylogenetics, and proteomics with the help of real-world examples. You'll learn how to work with important pipeline systems, such as Galaxy servers and Snakemake, and understand the various modules in Python for functional and asynchronous programming. This book will also help you explore topics such as SNP discovery using statistical approaches under high-performance computing frameworks, including Dask and Spark. In addition to this, you’ll explore the application of machine learning algorithms in bioinformatics. By the end of this bioinformatics Python book, you'll be equipped with the knowledge you need to implement the latest programming techniques and frameworks, empowering you to deal with bioinformatics data on every scale.
Table of Contents (15 chapters)

Using Mendelian error information for quality control

So, how can we infer the quality of calls using Mendelian inheritance rules? Let’s look at expectations for different genotypical configurations of the parents:

  • For a certain potential bi-allelic SNP, if the mother is AA and the father is also AA, then all offspring will be AA.
  • If the mother is AA and the father TT, then all offspring will have to be heterozygous (AT). They always get an A from the mother, and they always get a T from the father.
  • If the mother is AA and the father is AT, then the offspring can be either AA or AT. They always get an A from the mother, but they can get either an A or a T from the father.
  • If both the mother and the father are heterozygous (AT), then the offspring can be anything. In theory, there is not much we can do here.

In practice, we can ignore mutations, which is safe to do with most eukaryotes. The number of mutations (noise, from our perspective) is several...