Article

MAJIQ-CLIN: A novel tool for the identification of Mendelian disease-causing variants from RNA-Seq data

2025-02-02

Abstract excerpt

The current diagnostic rate for patients with suspected Mendelian genetic disorders is only 25 to 58%, even though whole exome sequencing (WES) is part of the standard of care. One reason for the low diagnostic rate is that traditional WES analysis methods struggle to detect RNA splicing aberrations. It is estimated that 15-50% of human pathogenic variants alter splicing, with numerous splice-altering variants bei...

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Literature Corpus work: bf4a6c5e-f9e5-5fa0-8c43-4711fa145364
DOI: 10.1101/2025.01.30.25321185

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