Ozan Özışık

PSAP-genomic-regions improves variant prioritization in whole genome sequencing by incorporating functional genomic regions, enhancing detection of both coding and non-coding pathogenic variants in rare disease diagnosis.

The paper analyzes genes mutated in muscular dystrophies to identify functional patterns linked to distal or proximal muscle weakness distribution.

This study applies collaborative network analysis to Huntington's disease transcriptomics data to identify enriched pathways and generate hypotheses about disease mechanisms.

The paper integrates multi-omics data from CAKUT patients to identify collagen's role in disease development and provides containerized workflows for analysis.

pathfindR identifies active subnetworks from gene lists and performs pathway enrichment analysis, clustering, and visualization for biological interpretation.

The paper introduces DAPath, a tool for analyzing GWAS SNPs in pathway contexts to study Behçet’s Disease aetiology in Japanese population, identifying key pathways impacted by modest SNPs.