安裝中文字典英文字典辭典工具!
安裝中文字典英文字典辭典工具!
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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
- 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
- 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
- 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
- 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
- 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
- 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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