Dmitrii Smirnov

PROTRIDER: Protein abundance outlier detection from mass spectrometry-based proteomics data with a conditional autoencoder

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

The Divergent 3D Genome Landscapes of Aging and Neurodegenerative mouse models

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.

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

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.

Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders

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.