Overview of next-generation sequencing to the molecular diagnosis of inborn errors of immunity in Brazil: a systematic review.

Although strategies based on WES predominated, platform specifications were often incomplete or omitted.

Quality control metrics and thresholds lack standardization, limiting comparability.

Variant prioritization and interpretation approaches varied, though ACMG/AMP guidelines were generally followed when reported, highlighting the need for standardized, transparent pipelines to improve reproducibility and diagnostic accuracy.