O43: Crowd-sourced annotation: A curation tool engaging future medical genomics professionals
The task of curating the growing number of genes known to cause a disease phenotype is a massive one that requires the effort of more individuals than are trained in medical genetics and funded through an institution. Crowd-sourcing aspects of the curation process combats this problem by inviting a wider community to support curation. Baseline Annotation is a crowd-sourced curation activity developed by the University of North Carolina (UNC) Biocuration and Coordination Core (BCC) affiliated with the Clinical Genome Resource (ClinGen), that utilizes the power of community curation to lay the groundwork for sequence variant classification through developing repositories of structured case report summaries.
Authors
- Justyne Ross (ORCID: https://orcid.org/0000-0002-7437-8060)
- William Hankey (ORCID: https://orcid.org/0000-0001-5935-2391)
- Jonathan S. Berg (ORCID: https://orcid.org/0000-0003-2360-2664)
- Lindsay Worley (ORCID: https://orcid.org/0000-0003-2773-578X)
- Courtney Thaxton (ORCID: https://orcid.org/0000-0002-6733-369X)
- Jennifer Goldstein (ORCID: https://orcid.org/0000-0002-5655-9589)
- Shruthi Mohan (ORCID: https://orcid.org/0000-0001-8376-699X)
- Amber Waddell (ORCID: https://orcid.org/0009-0007-0138-2054)
- Pepper St. Clair
- Randy Cockerell
Institutions
- University of North Carolina at Chapel Hill (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102353
- Primary Topic
- Biomedical Text Mining and Ontologies
- Type
- article
- Field-Weighted Citation Impact
- 0.00