IEIVariantFilter: a bioinformatics tool to speed up genetic diagnosis of inborn errors of immunity patients.

ABSTRACT: 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 diagn

SUBMITTER: Pereda J 

PROVIDER: S-EPMC12117399 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature