Research

Overall Interests: Our lab is dedicated to innovating in molecular diagnostics. We develop cutting-edge tools designed to convert nucleic acids into actionable clinical insights. We have been at the forefront of several breakthrough technologies in cell-free DNA 'liquid biopsy' testing, CRISPR diagnostics, clinical metagenomic sequencing, non-invasive prenatal testing, and COVID diagnostics. We have extensively studied cell-free nucleic acids from minimally invasive biopsies that contain terabytes of epigenetic and genetic data. Our goal is to maximize the diagnostic potential from this rich data through less invasive sampling, providing earlier, actionable information for patients. These biomarkers have already proven to be useful in fetal, transplant, microbial, and cancer diagnostics. However, there is still much to learn about utilizing this unique dataset in the context of human disease.

Current Interests: Our research team recently invented a methylation sequencing profiler that enriches genomewide by up to 16-fold (95%+ of reads have unbiased CpG data), and we are leveraging it to focus on:  tumor classification, early cancer detection, early cancer prognostication, enhancing minimally invasive biopsies classification and prognostication, and tools to advance the diagnostic resolution of hard-to-diagnose clinical cases. The profiler is scaled and allows us to generate methylation profiles from thousands of FFPE and cfDNA specimens, beyond what is usually available or affordable. We then use advanced computational techniques related to methylation classification, bulk deconvolution, markers of prognostication, and new approaches in these areas. 

We work closely with the Molecular Genetic Pathology Laboratory and are open to collaborations.