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Research Directions
Functional Genomic Variant Interpretation
Our work centers on bridging the gap between genomic variant discovery and biological causality. Utilizing high-resolution whole-genome sequencing (WGS) data—specifically from the KidsFirst pediatric cohorts—we employ advanced computational modeling to determine the functional impact of rare and de-novo variants.
RNA-Level Disease Signatures
Genomics tells us the potential for disease; transcriptomics tells us the current state of pathogenesis. We specialize in deep RNA-Seq analysis to identify the molecular signatures that characterize specific rare disease phenotypes. Our research focuses on identifying transcriptomic dysregulation that remains invisible to standard genomic screening.
Multimodal Data Integration
The future of rare disease research lies in the harmonization of disparate data layers. Hiromics develops sophisticated data integration frameworks that combine genomics, transcriptomics, and clinical phenotyping with structural biology and pharmacological databases.
Comparative Modeling & In-Vivo Validation
Computational predictions are only as powerful as their biological validation. At Hiromics, we leverage model organisms to validate the druggable nodes and pathogenic variants identified through our KidsFirst data pipelines. This pillar focuses on cross-species functional genomics to ensure that the therapeutic pathways we identify in human data are biologically active and targetable.