Clinical Genomics Innovation
Variant Impact Analysis
Our research focuses on bridging the gap between genomic variant discovery and biological causality. Using high-resolution whole-genome sequencing (WGS) data from the KidsFirst pediatric cohorts, we employ advanced computational modeling to determine the functional impact of rare and de-novo variants.
RNA Disease Markers
While genomics indicates disease potential, transcriptomics reveals the active functional state of pathogenesis. We specialize in deep RNA-Seq analysis to identify molecular signatures of rare disease phenotypes and transcriptomic dysregulation invisible to standard genomic screening.
Integrated Data Science
Hiromics advances rare disease research through sophisticated data integration frameworks. We harmonize genomics, transcriptomics, and clinical phenotyping with structural biology and pharmacological databases to unify disparate data layers.
Validation & Modeling
At Hiromics, we use model organisms to biologically validate druggable nodes and pathogenic variants identified through our KidsFirst data pipelines. This cross-species functional genomics approach ensures that the therapeutic pathways identified in human data are both biologically active and targetable.