The Cassa Research Group conducts predictive analytic research in two major application areas: the pathogenicity assessment of genomic variants and the clinical application of predictive algorithms in genomics. These applications draw on approaches to enable unprecedented extraction of information from existing data sources.

We develop methods to analyze genomic sequence data, which is a rapidly emerging field in clinical medicine. Healthy individuals carry hundreds of genetic variants that have been previously associated with disease, and there is a pressing need to distinguish between causal variants and those that are either incompletely penetrant or false positives. As part of this research program, we have helped develop algorithms to computationally assess the clinical impact of these genetic variants using previously unused population health datasets and machine learning approaches. This work resulted in winning first place in an international genomic interpretation challenge called CLARITY (Children’s Leadership Award for the Reliable Interpretation and appropriate Transmission of Your genomic information.)

Our program assesses the clinical and syntactic validity of previously described variant databases and translates this research into patient care in the Brigham Genomic Medicine Program.