Next-generation sequencing, particularly whole exome sequencing (WES), has transformed the molecular diagnosis of immune inborn defects. This study provides an overview of the creation and interpretation of next-generation sequencing data. The emphasis is on prioritizing techniques for identifying possible disease-causing variants. We also emphasized the shortcomings and flaws of WES and focused panel sequencing, as well as the importance of functional validation.

The knowledge is critical for researchers, but much more so for clinical immunologists, to make wise use of WES.

Reference: https://journals.lww.com/co-allergy/Abstract/2017/12000/Whole_exome_sequencing_in_inborn_errors_of.6.aspx