MAJIQ-CLIN: A novel tool to help identify Mendelian disease-causing variants from RNA-Seq data

MAJIQ-CLIN — tool for identifying causative splicing aberrations in Mendelian diseases from diagnostic RNA-Seq data (detection of LSV, oLSV, and pLSV)

MAJIQ-CLIN is a new tool dedicated to identifying causative splicing aberrations in Mendelian diseases from RNA-Seq data. It improves the diagnostic rate of patients with negative WES/WGS by detecting splicing variants (LSV, orphan junctions, pseudo-exons) not identifiable by genomic analysis alone. The tool is validated on synthetic data and real cases from the Undiagnosed Diseases Network (UDN). An integrated clinical interface facilitates prioritization of candidate variants.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Integrating RNA-Seq as a complementary diagnostic tool alongside WGS/WES is now essential for undiagnosed diseases. MAJIQ-CLIN provides a practical and clinically oriented solution with a variant prioritization interface. The UDN validation is particularly compelling for diagnostic traceability.