Introduction
Whole exome sequencing (WES) is a technique to selectively capture and sequence the coding regions of all annotated protein-coding genes. Coupled with next-generation sequencing (NGS) platforms, it enables the analysis of functional regions of the human genome with unprecedented efficiency. Since its first reported application [1, 2], WES has emerged as a powerful and popular tool for researchers elucidating genetic variants underlying human diseases (Fig. 1) despite certain limitations (see below).