MAJIQ-CLIN: A novel tool to help identify Mendelian disease-causing variants from RNA-Seq data
A new genetic analysis tool detects disease-causing splicing errors in rare inherited disorders, improving diagnostic rates.
MAJIQ-CLIN, developed by the Barash/Bhoj labs at UPenn/CHOP with the Undiagnosed Diseases Network, is a new bioinformatics tool that improves RNA-Seq-based detection of pathogenic splicing variants in Mendelian disease, outperforming existing methods on synthetic benchmarks and real patient data. By enabling efficient, batch-controlled analysis of rare disease RNA splicing aberrations not detectable by standard exome/genome sequencing, it has potential to improve diagnostic rates for undiagnosed genetic disorders.
What the study was
- Study design
- Tool development and validation (synthetic + real datasets)
- Population
- Patients with suspected Mendelian genetic disorders; synthetic benchmark + Undiagnosed Diseases Network cases
- Category
- Diagnostics
- Maturity
- Validated
- Journal
- Genetics in Medicine
Why it surfaced
Practical bioinformatics tool for Mendelian disease diagnosis; Genetics in Medicine; addresses real unmet need in rare/undiagnosed disease; UDN collaboration adds credibility.
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