Clinical Variant Scientist, Mayo Clinic
I am a geneticist in the Center for Individualized Medicine sponsored, Translational Omics Program at the Mayo Clinic. My research involves the characterization of variants of uncertain significance and variants in genes of unknown significance with the goal of providing a genetic diagnosis to undiagnosed patients. In this work, we identify cohorts of individuals that are similarly affected and have comparable genetic findings, providing genotype-phenotype correlations, and work with our wet lab and/or collaborators to discern the functional impact of variants on gene function. In addition, I am involved in multi-team research efforts to develop software tools to semi-automate variant curation, implement reanalysis pipelines to be used for our undiagnosed cohorts, and develop interpretation tools for RNAseq data.