Genomics in the AWS Cloud

CHAPTER 1Why Do Genome Analysis Yourself  When Commercial Offerings Exist?

As you begin to explore sequencing a genome and analyzing the results, you will no doubt become aware of a number of commercial operations that offer to do the job for you, neat and tidy, in exchange for a modest amount of money. Why would you want to go through the time and hassle involved in doing the work yourself when such convenient offerings are so easy to use? Why not engage a service to do your genetic analysis and enjoy the benefits of something that “just works”?

The answer has, essentially, two parts.

The first is that the commercial services may not provide all the information you want, not least because they are hamstrung by regulations that govern the provision of medical advice. They tend to provide “novelty” information—Larry Lightbulb kinds of things about hair color and finger length, as well as about racial, national, and tribal heritage. They are great for educating children about the sorts of information that DNA can carry and for talking about heritability of characteristics good, bad, and neutral. When you do the sequencing and analysis yourself, you can extract whatever information you want.

The second is that you are the kind of person who likes to do things yourself, either just for the satisfaction of it or because you want to understand how everything works and fits together. Working on your personal genome in Amazon Web Services (AWS) is an excellent way to learn about those ...