Mirjana Gušić

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.

This study analyzes 2,023 pediatric exomes to diagnose mitochondrial disease, identifying 1,109 molecular diagnoses and 62 novel disease genes through exome sequencing and functional studies.

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.

FRASER detects aberrant splicing events in RNA-seq data, identifying pathogenic intron retention and improving sensitivity over z-score methods.

The paper quantifies protein-to-mRNA (PTR) ratios across 29 human tissues and identifies sequence determinants influencing these ratios, finding many new post-transcriptional regulatory elements.

This study develops OCR-Stats, a statistical method to improve the accuracy of mitochondrial respiration measurements from Seahorse XF Analyzer data by addressing noise and variation across plates and wells.