Christian Staufner

aRgus provides a webtool for visualizing and analyzing non-synonymous variants with pathogenicity scoring to assess genetic vulnerability.

The paper implements RNA-seq in diagnostics for Mendelian diseases, achieving a 16% diagnosis rate in WES-inconclusive cases by detecting aberrant expression, splicing, and mono-allelic expression.

Adding tandem mass tag proteomics to genome and transcriptome data resolved 22% of 121 unsolved suspected mitochondrial disease cases and surfaced two new disease genes.

The paper analyzes FDA orphan drug designations for lysosomal storage disorders, showing growth in approved therapies and diversification into small molecules and gene therapy.