ClinGen is defining the clinical relevance of genes and variants
Founded in 2013 by the National Human Genome Research Institute, ClinGen is a growing collaborative effort, involving three grants, nine principal investigators and over 2,500 contributors from more than 68 countries. Below are a series of recent updates that ClinGen has been working on.
Advancing genomic knowledge through global curation
In Genetics in Medicine, a special article from ClinGen describing the methods of genomic curation and development of software and infrastructure needed to support a global consortium capable of large-scale evidence-based curation.
Volunteer as an Expert
Interested in contributing your expert knowledge and/or data to a ClinGen GCEP or VCEP? Learn more and take our volunteer expert survey.
ClinGen Downloads and APIs
Visit our File Downloads and APIs page for a summary of available ClinGen curation files and API resources.
Volunteer to Curate
Please take a brief survey to tell us more about your interests and desired level of involvement so we can pair you with an appropriate curation activity and/or Expert Panel.
New to ClinGen? Learn how to get started...
Learn more about our efforts by choosing one of the options below.
Curation Activities
Clinical Actionability
Are there actions that could be taken to improve outcomes for patients with this genetic risk?
Learn More Browse Curations
Dosage Sensitivity
Does loss or gain of a copy of this gene or genomic region result in disease?
Learn More Browse Curations
Somatic Cancer Variant
Somatic Cancer Clinical Domain Working Group curates the clinical significance of genomic anomalies associated with different cancer types within the following diseases specific task forces - pediatric cancers, pancreatic cancer, lung cancer and genitourinary cancers
Learn More Interface
Baseline Annotation
Baseline annotation focuses on annotating evidence in the biomedical literature in a structured and standardized way, thus supporting our expert panels, working groups, and curation processes.
Learn More Community Curation Database
Recent Updates
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January 8, 2025 ClinGen Gene-Disease Validity Curation Module
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January 8, 2025 ClinGen Dosage Sensitivity Curation Module
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January 8, 2025 ClinGen Variant Pathogenicity Curation Module
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January 3, 2025 Integrating Pharmacogenomics into the Broader Construct of Genomic Medicine: Efforts by the ClinGen Pharmacogenomics Working Group (PGxWG)
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December 20, 2024 ClinGen Quarterly Update October - December 2024
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December 2, 2024 GenomeConnect - How to Upload Your Genetic Testing Report
An important part of participating in GenomeConnect is sharing your genetic test report. This short video explains how to upload your report to GenomeConnect. -
December 2, 2024 ClinGen Opportunities
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December 2, 2024 GenomeConnect - Fourth Quarter 2024 Newsletter
This is a copy of the GenomeConnect Fourth Quarter 2024 Newsletter that is accessible to screen readers. The newsletter is also linked here: https://create.piktochart.com/output/cc99b95a6af5-2024-q4-newsletter.