P637: Reactive curation of monogenic gene-disease associations in a rapid genome sequencing lab*
Assessing the strength of a gene-disease association (GDA) is essential for accurate variant classification and reporting by diagnostic laboratories. The Clinical Genome Resource (ClinGen) established a framework for gene curation, the process of curating evidence and assessing the strength of a GDA, which has evolved since its initial dissemination in 2017. Several clinical laboratories have published on the integration of gene curation in their workflows and contributed to data harmonization efforts through the Gene Curation Coalition (GenCC) database.
Authors
- Arivudainambi Ramalingam
- Deepali N. Shinde
- Lucia Guidugli
- Katarzyna A. Ellsworth (ORCID: https://orcid.org/0000-0001-6269-4771)
- Jennifer Schleit
- Katie Golden‐Grant
- Kristina Robinson
- Staffan Olsson
- Rishona Lavy
Institutions
- Children’s Institute (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103006
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00