Genetic & Genomic MedicinemedRxivPreprint
MAJIQ-CLIN: A novel tool for the identification of Mendelian disease-causing variants from RNA-Seq data
Joseph K. Aicher, Dina Issakova, Barry Slaff…·Yoseph Barash
MAJIQ-CLIN improves the detection of Mendelian disease-causing variants from RNA-Seq by addressing splicing aberrations, showing better accuracy and efficiency than existing tools.
DOI 10.1101/2025.01.30.25321185