Whole-exome sequencing (WES) can effectively sequence >90% of the coding DNA in an individual, and reveal potential disease-causing genetic variants. In this Review, de Bruin and Dauber discuss the use of WES in the field of endocrinology, how this technique can reveal new insights into both rare and common disorders, and its future use in a clinical environment.
- Christiaan de Bruin
- Andrew Dauber