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.

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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
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article

O43: Crowd-sourced annotation: A curation tool engaging future medical genomics professionals

Justyne Ross, William Hankey, Jonathan S. Berg, Lindsay Worley et al.
Genetics in Medicine Open
Biomedical Text Mining and Ontologies
article

O43: Crowd-sourced annotation: A curation tool engaging future medical genomics professionals

Justyne Ross, William Hankey, Jonathan S. Berg, Lindsay Worley, Courtney Thaxton, Jennifer Goldstein, Shruthi Mohan, Amber Waddell, Pepper St. Clair, Randy Cockerell
article en

Abstract

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.

Genetics in Medicine OpenVol. 3
University of North Carolina at Chapel Hill (US)
Openalex Percentile: Top 96%
Biomedical Text Mining and Ontologies
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