|
- 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
- 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
- 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
- Dosage Sensitivity Curations
ClinGen Community Curation (C3) ClinGen Curation of ClinVar; Clinical Domain Working Groups; Copy Number Variant Interpretation Guidelines; Curated Disease Entity; Data Access, Protection, and Confidentiality; Data Platform; Dosage Sensitivity Curation; Education, Coordination and Training; External Scientific Panel; Gene Curation
|
|
|