Gabe Rudy

This study compares deep learning splice prediction algorithms, finding open-source reimplementations match the original SpliceAI in performance while outperforming traditional methods.

VSPGx is a pharmacogenomics software that accurately identifies diplotypes and annotates them with CPIC guidelines, outperforming existing tools in synthetic and clinical benchmarks.

This study evaluates the performance of Twist Bioscience's enhanced exome capture kit with VS-CNV 2.6 in detecting CNVs, achieving 100% sensitivity across probe densities.

This study applies PCA to 46,046 SARS-CoV-2 genomes to uncover previously unnoticed virus lineages and mutation patterns.