Whole-genome, whole-exome, Sanger, targeted next-generation sequencing, and Sanger genome sequencing methods have come a long way in recent years. Genetic disease researchers now have many advanced techniques to choose from when designing and implementing their studies.
This is not a trivial decision. Although whole-genome, whole-exome, targeted next-generation, and Sanger sequencing can indeed all yield gene sequences of interest to a researcher, they are far from interchangeable. While whole-genome/whole-exome sequencing is suited to discovery-based questions, targeted next-generation or Sanger sequencing is preferred for a hypothesis-driven approach.
In just about every kind of disease research, the information that is already available about a specific disease goes a long way toward informing what sorts of tools can best lead to more information, and research into genetic diseases is no exception.
So, how do you choose the right sequencing approach for genetic disease research?