
معرفی
Courtney Thaxton, PhD, is an Associate Professor in the Department of Genetics at the University of North Carolina School of Medicine. She directs the ClinGen-affiliated UNC Biocuration and Coordination Core, overseeing clinical domain working groups and expert panels within the ClinGen initiative. Her research focuses on developing computational methods for biocuration, refining gene-disease validity frameworks, and establishing standardized nomenclature for monogenic diseases. Dr. Thaxton holds a PhD in Biomolecular Sciences from the University of Central Florida and completed postdoctoral training at UNC-Chapel Hill.
Education:
- PhD in Biomolecular Sciences, University of Central Florida (2007)
- BS in Molecular Biology and Microbiology, University of Central Florida (2002)
Research Interests:
- Biocuration methodologies for genomic data
- Clinical validity assessment of gene-disease relationships
- Computational tools for variant annotation and evidence extraction
- Standardization of genetic terminology for precision medicine
Advising & Grants:
- Supervises curation teams and expert panels within ClinGen
- Develops frameworks for collaborative genomic data interpretation
Labs & Teams:
- Director of the UNC Biocuration and Coordination Core
- Collaborates with international research groups on genetic disease curation
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