Genomics in the Cloud

Chapter 2. Genomics in a Nutshell: A Primer for Newcomers to the Field

Now that we’ve given you the broad context of the book in Chapter 1, it’s time to dive into the more specific scientific context of genomics. In this chapter, we run through a brief primer on key biological concepts and related practical information that you need to know in order to benefit fully from working through the exercises in this book. We review the fundamentals of genetics and build up to a definition of genomics that will frame the scientific scope of this book. With that frame in place, we then review the main types of genomics variation, with a focus on how they manifest in the genome. Finally, we go over the key processes, tools, and file formats involved in generating and processing high-throughput sequencing data for genomic analysis.

Depending on your background, this might serve as a quick refresher, or it might be your first introduction to many of these topics. The first couple of sections are aimed at readers who have not had much formal training in biology, genetics, and related life sciences. If you are a life-sciences student or professional, feel free to skim through until you encounter something that you don’t already know. In later sections, we progressively introduce more genomics-specific concepts and tools that should be useful to all but the most seasoned practitioners.

Introduction to Genomics

So what is genomics? The short answer, “it’s the science of genomes,” doesn’t really ...