Justin Bedő

This study identifies secondary splice-site mutations in BRCA1 that drive exon skipping and PARP inhibitor resistance in ovarian and breast cancer.

The paper improves variant impact prediction by integrating deep mutational scanning and low-throughput alanine scanning data across multiple proteins.

svaRetro and svaNUMT are R packages for annotating retrotransposed transcripts and nuclear mitochondrial DNA integration in genome sequencing data, evaluated using simulations and benchmarking datasets.

The paper improves HLA-based prediction of coeliac disease by identifying two novel risk modifiers, DQ6.2 and DQ7.3, and develops a new risk score with better predictive performance.

Bioshake is a Haskell EDSL for bioinformatics pipelines that enables static error checking and robust execution through type-level properties and integration with Shake.