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  • 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 2,700 contributors from more than 72 countries
  • Sequence Variant Interpretation - ClinGen - Clinical Genome
    The ClinGen Criteria Specification(CSpec) Registry is a centralized database designed for the management and maintenance of Criteria Specifications of ACMG evidence codes for variant pathogenicity classification defined by the ClinGen Variant Curation Expert Panels
  • Dosage Sensitivity - ClinGen | Clinical Genome Resource
    The ClinGen Dosage Sensitivity curation process collects evidence supporting refuting the haploinsufficiency and triplosensitivity of genes and genomic regions
  • Get Started With ClinGen - Clinical Genome
    The Clinical Genome Resource, or ClinGen, is a National Institutes of Health funded initiative to increase the community’s knowledge about the relationship between genes and health We are dedicated to building a knowledge base that defines the clinical relevance of genes and variants for use in precision medicine and research
  • ClinGen
    The ClinGen gene curation process combines an appraisal of genetic and experimental data in the scientific literature with expert review to classify gene-disease pairs into 1 of 6 categories according to ClinGen's Gene-Disease Clinical Validity Classification framework
  • Gene-Disease Validity - ClinGen | Clinical Genome Resource
    The ClinGen Gene-Disease Clinical Validity curation process involves evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular monogenic disease
  • 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 The interface is currently restricted to Gene Curation curators
  • About Us - 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
  • About ClinGen Expert Panels - Clinical Genome
    One specific goal of ClinGen is to develop teams of experts in different clinical domains to evaluate the clinical validity of gene-disease relationships and pathogenicity of individual genetic variants
  • Variant Pathogenicity - ClinGen | Clinical Genome Resource
    Variants curated by ClinGen Variant Curation Expert Panels have been recognized by the FDA as a source of valid scientific evidence that can support clinical validity Click here to learn more about the FDA's recognition of ClinGen as a public human genetic variant database





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