Dmitrii Smirnov

PROTRIDER detects protein expression outliers in proteomics data using conditional autoencoders, outperforming existing methods and revealing enrichments of pathogenic variants in outliers.

This study compares 3D genome changes in aging and neurodegenerative mouse models using Hi-C, finding shared early features and distinct later changes linked to DNA damage.

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.