- Biocuration
- Clinical Genetics
- Genomics
- +۵ مورد دیگر
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












