Linking DNA variants to biological function
Our lab focuses on linking DNA sequence variants to their biological function, with the goal of understanding how genetic differences translate into measurable effects at the molecular, cellular, and organismal levels. While large-scale sequencing studies have identified millions of genetic variants, the functional impact of most of these changes remains unknown. We prioritize distinguishing neutral variation from variants that directly influence gene regulation, protein function, or cellular pathways.
To address this challenge, we integrate genomic data with experimental and computational approaches that test variant function. This includes assessing how specific DNA changes alter gene expression, protein activity, or regulatory element behavior. By combining functional assays with bioinformatic analysis, we aim to move beyond association and establish causal links between genetic variants and biological outcomes.
Our work has direct relevance for human health and disease, as many clinically important variants exert subtle but meaningful effects on biological systems. By clarifying the functional consequences of genetic variation, our research supports improved interpretation of genetic data in both research and clinical contexts. Ultimately, this approach helps translate genomic information into actionable biological insight.
