Abstract: INFO07-SA
The Clinical Genome Resource (ClinGen): Advancing Genomic Knowledge through Global Curation
Session Information
- Informational Posters - 3
October 26, 2024 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- No subcategory defined
Authors
- Byrne, Alicia B., Broad Institute, Cambridge, Massachusetts, United States
- Stark, Zornitza, Australian Genomics Health Alliance, Parkville, Victoria, Australia
- Lennon, Rachel, The University of Manchester, Manchester, United Kingdom
- Mallett, Andrew John, Townsville Hospital and Health Service, Townsville, Queensland, Australia
Group or Team Name
- ClinGen and the ClinGen Kidney Disease Clinical Domain Working Group.
Description
The Clinical Genome Resource (ClinGen) is a National Institutes of Health-funded program that defines the clinical relevance of genes and variants for use in precision medicine and research.
ClinGen working groups develop standards and infrastructure for sharing data about genes, genetic conditions, and the genetic variants that cause them, and establish evidence frameworks and curation tools to promote their consistent evaluation. Across different clinical domains, international panels use these resources to provide expert assessment of genomic knowledge. The ClinGen Kidney Disease Clinical Domain Working Group was established in 2019, convening Gene Curation Expert Panels (GCEPs), to evaluate the clinical validity of gene-disease relationships, and Variant Curation Expert Panels (VCEPs), to classify the pathogenicity of genetic variation, across five broad disease areas to cover the full spectrum of nephropathies: Kidney Cystic and Ciliopathy Disorders, Tubulopathies, Glomerulopathies, Congenital Anomalies of Kidney and Urinary Tract (CAKUT), and Complement-Mediated Kidney Diseases. Curated data are freely accessible on the ClinGen website (clinicalgenome.org), available in a machine-readable format through the ClinGen Data Exchange, and submitted to the GenCC and ClinVar public databases.
ClinGen’s genomic knowledge base can be used to build evidence-based genetic testing panels, interpret genetic variation and resolve discrepancies in variant classification, and guide disclosure of genomic findings to patients. ClinGen’s iterative improvements to standardized methods for evidence evaluation, incorporation of new technologies, and ongoing development of curation ecosystems will support continued efforts to provide rigorous, evidence-based curation of genomic information that is reproducible, sustainable, and clinically relevant for people of all backgrounds.
Funding
- ClinGen is primarily funded by the National Human Genome Research Institute (NHGRI), with co-funding from the National Cancer Institute (NCI), through the following three grants: U24 HG009649 (to Baylor/Stanford), U24 HG006834 (to Broad/Geisinger), and U24 HG009650 (to UNC).