Link to Pubmed [PMID] – 40438610
Link to DOI – 10.1093/nargab/lqaf069
NAR Genom Bioinform 2025 Jun; 7(2): lqaf069
Severe infectious diseases remain the leading cause of death in children and young adults worldwide. Monogenic inborn errors of immunity (IEIs) are traditionally defined as a heterogeneous group of rare inborn genetic diseases affecting the functioning of the immune system. Greater awareness has led to the clinical definition of 485 monogenic IEIs and whole exome sequencing (WES) is becoming increasingly relevant for IEI genetic diagnosis. The current protocol for IEI genetic studies includes manual filtering of the list of genes obtained as a WES read-out providing a short list of candidate genes. This procedure is time-consuming and can produce mistakes due to human error in manual filtering. IEIVariantFilter is a new web-based bioinformatics tool to speed up and refine the genetic diagnosis of IEI patients oriented for users in the biomedical field without needing bioinformatics expertise. IEIVariantFilter prioritizes genetic variants based on ranges of zygosity, the quality of reads, the predicted variant effect, and genes related to immunity, considering a consanguineous hypothesis whenever necessary. IEIVariantFilter facilitates gene and variant list prioritization, speeding up the identification of candidate disease-causing variants for validation by experimental studies. The software improves the genetic diagnosis of patients, thereby facilitating precision medicine and fast and proper treatment.