Clinical Genome - Welcome to ClinGen 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 2,800 contributors from more than 74 countries Below are a series of recent updates that ClinGen has been working on
Get Started - ClinGen | Clinical Genome Resource ClinGen - Clinical Genome Resource While knowledge in the field of human genetics has greatly increased since the time of the Human Genome Project, we are still learning all of the ways in which changes in our DNA contribute to human health and disease The Clinical Genome Resource, or ClinGen, is a National Institutes of Health funded initiative to increase the community’s knowledge about
Dosage Sensitivity - ClinGen | Clinical Genome Resource Dosage Sensitivity Curation The ClinGen Dosage Sensitivity curation process collects evidence supporting refuting the haploinsufficiency and triplosensitivity of genes and genomic regions
Gene-Disease Validity - ClinGen | Clinical Genome Resource The ClinGen Gene Curation working group has developed a framework to standardize the approach to determine the validity for a gene-disease pair This framework: Defines the criteria needed to assess gene-disease validity Describes the evidence supporting a gene-disease relationship in a semi-quantitative manner, and Allows curators to use this information to methodically classify the validity
Expert Panels - ClinGen | Clinical Genome Resource About ClinGen Expert Panels ClinGen's Expert Panels are implementing the standards developed by our curation activities to improve genomics knowledge
Tools - ClinGen | Clinical Genome Resource ClinGen's Gene-Disease Clinical Validity tools support evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular disease
About Us - ClinGen | Clinical Genome Resource ClinGen - Clinical Genome Resource ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research
ClinGen Web - Clinical Genome ClinGen's File Downloads APIs Sign up for the ClinGen General Interest Mailing list to get news and updates delivered to your mailbox If you are interested in notifications when ClinGen file formats change, please opt in to the ClinGen Website File Format Change Notification List
Working Groups - ClinGen | Clinical Genome Resource The ClinGen Artificial Intelligence and Automation Working Group (AIA WG) is established to strategically evaluate, guide, and implement the use of artificial intelligence (AI) and automation technologies to enhance the efficiency, consistency, and scalability of ClinGen’s efforts