Alexis Komor

he long-term goal of the Komor Lab research program is to combat the variant interpretation problem that looms over the field of precision medicine: there are currently over 685 million human single nucleotide variants (SNVs) identified in the dbSNP database, and less than 1% have a defined clinical interpretation in ClinVar. This issue is particularly endemic to rare genetic variants and those discovered in minoritized populations and indigenous people, highlighting the need for a significant increase in studies that functionally assess human genetic variants in an ethnically equitable manner. We therefore aim to develop new laboratory-based methods that facilitate the functional characterization of SNVs to aid in the diminishment of this healthcare inequity and allow for the identification of new therapeutic strategies in the field of precision medicine in a more equitable manner.