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Research in the Komor lab seeks to integrate the fields of nucleic acid chemistry, DNA damage and repair, protein engineering, directed evolution, and genome editing to develop new laboratory-based methods that facilitate the functional characterization of human genetic variants. Specifically, they engineer new precision genome editing methodologies, mechanistically study how these tools work (from both enzymatic and cellular DNA repair perspectives), and apply these tools to functionally interrogate how specific point mutations contribute to human disease. The long-term goal of her research program is to combat the variant interpretation problem that hampers progress in the field of precision medicine: there are currently over 685 million human single nucleotide variants identified through human sequencing data, and less than 1% have a defined clinical interpretation. 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 a more equitable manner.
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