Joseph K. Aicher

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.

The paper introduces MAJIQ v2, a tool for analyzing RNA splicing in large and heterogeneous RNA-seq datasets, showing improved performance over existing methods and applying it to brain subregion-specific splicing analysis.

The paper assesses how RNA-seq from clinically-accessible tissues represents splicing in non-accessible tissues and introduces a resource to explore these findings.

The paper extends the Integrated Gradients method for better interpretability of deep learning models in genomics by incorporating nonlinear paths and alternative baselines.