Whole exome sequencing in inborn errors of immunity: use the power but mind the limits

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Purpose of review

Next-generation sequencing, especially whole exome sequencing (WES), has revolutionized the molecular diagnosis of inborn errors of immunity. This review summarizes the generation and analysis of next-generation sequencing data.

Recent findings

The focus is on prioritizing strategies for unveiling the potential disease-causing variant. We also highlighted oversights and imperfections of WES and targeted panel sequencing, as well as the need for functional validation.


The information is crucial for a judicious use of WES by researchers, but even more so by the clinical immunologist.

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