It is often of interest to know how often a sequence occurs in a sample of interest—that is, to estimate whether, in your particular sample, a locus has been duplicated or its copy number has increased. The locus could be anything from a gene at Kbp scale or a large section of DNA at Mbp scale. Our approach in this recipe will be to use HTS read coverage after alignment to estimate a background level of coverage and then inspect the coverage of our region of interest. The ratio of the coverage in our region of interest to the background level will give us an estimate of the copy number in the region. The recipe here is the first step. The background model we use is very simple—we calculate only a global mean, but we'll discuss some alternatives later. Also, this recipe does not cover ploidy—the number...
R Bioinformatics Cookbook
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R Bioinformatics Cookbook
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Overview of this book
Handling biological data effectively requires an in-depth knowledge of machine learning techniques and computational skills, along with an understanding of how to use tools such as edgeR and DESeq. With the R Bioinformatics Cookbook, you’ll explore all this and more, tackling common and not-so-common challenges in the bioinformatics domain using real-world examples.
This book will use a recipe-based approach to show you how to perform practical research and analysis in computational biology with R. You will learn how to effectively analyze your data with the latest tools in Bioconductor, ggplot, and tidyverse. The book will guide you through the essential tools in Bioconductor to help you understand and carry out protocols in RNAseq, phylogenetics, genomics, and sequence analysis. As you progress, you will get up to speed with how machine learning techniques can be used in the bioinformatics domain. You will gradually develop key computational skills such as creating reusable workflows in R Markdown and packages for code reuse.
By the end of this book, you’ll have gained a solid understanding of the most important and widely used techniques in bioinformatic analysis and the tools you need to work with real biological data.
Table of Contents (13 chapters)
Preface
Free Chapter
Performing Quantitative RNAseq
Finding Genetic Variants with HTS Data
Searching Genes and Proteins for Domains and Motifs
Phylogenetic Analysis and Visualization
Metagenomics
Proteomics from Spectrum to Annotation
Producing Publication and Web-Ready Visualizations
Working with Databases and Remote Data Sources
Useful Statistical and Machine Learning Methods
Programming with Tidyverse and Bioconductor
Building Objects and Packages for Code Reuse
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