Conclusion
There is no doubt that NGS has provided researchers with unprecedented power to resolve the genetic etiology of various human diseases. When WES was first introduced, its utility was highly debated due to its apparent limitations, such as incomplete coverage of functional elements and low sensitivity for structural variant detection. However, the practical advantages of the technology have made it a favored tool for researchers, and WES will likely continue to be widely used for the foreseeable future. Furthermore, as library capture methods and data analysis pipelines improve, increasing amounts of genomic information, aside from single-nucleotide changes and short indels, can be extracted. Examples of this include homozygosity interval mapping, common SNP genotyping information for various population-level analyses, and detection of structural variants [17, 18]. Finally, the strengths of WES-short turnaround times, low cost, and relatively easy data interpretation-make it an optimal tool for clinical diagnosis. The increased use of WES in the clinic will surely spur the development of personalized medicine and reinvent treatment practices in the near future [1, 19].