Whole exome sequencing (WES) provides coverage of more than 95% of the exons, which harbor the majority of the genetic variants associated with human disease phenotypes.1 It offers researchers the ability to use sequencing and analysis resources more efficiently by focusing on the most relevant portion of the genome (the coding regions) and facilitates the discovery and validation of common and rare variants. Sequencing of the exome provides many of the benefits of whole-genome sequencing (WGS) with greatly reduced resources.