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 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. We do this by first encouraging the sharing of genetic and health data by our key stakeholder groups: patients, clinicians, laboratories, and researchers.

We then use this data to answer a number of key curation questions:

  • Is this gene associated with a disease, and by which mechanisms do variation cause this disease?
  • Is this variant causative?
  • Will this information affect medical management?

Once we answer these questions via our various curation efforts, we make this information publicly available, building a genomic knowledge base with the goal of improving patient care through genomic medicine.

ClinGen's Curation Activities

Learn about each of our curation activities by clicking the links below.

Gene-Disease Validity

  • Our curators review genetic and experimental data in the scientific literature to identify genes in which pathogenic variants cause disease.
  • Laboratories may use this type of information when deciding which genes to include in clinical testing panels.
  • Clinicians may use this type of information when interpreting test results for their patients.

Dosage Sensitvity

  • The dosage sensitivity curation process collects evidence supporting or refuting haploinsufficiency (loss) and triplosensitivity (gain) as mechanisms for disease for genes and larger genomic regions.
  • Laboratories and clinicians may use this information when interpreting the clinical significance of variants involving loss or gain of genomic material, such as those identified by chromosomal microarray (CMA).

Variant Pathogenicity

  • The variant curation process combines clinical, genetic, population, and functional evidence with expert review to classify variants according to ACMG/AMP guidelines.
  • Result of variant curation are deposited in ClinVar for community access.
  • Laboratories and clinicians may use ClinGen’s variant curation tools to evaluate evidence for a variant that has not yet undergone expert review, or has a discrepancy in classification that requires resolution.

Clinical Actionability

  • Certain genetic conditions have medical interventions that can delay symptoms, prevent disease, result in earlier detection, etc.
  • The actionability curation process evaluates availability of effective medical interventions, accounting for the chance the outcome will happen, the severity of the condition to be avoided, and the risks associated with the intervention.
  • Decision makers may use this information to decide which secondary finding results to report back to patients.

ClinGen's Resources & Tools

ClinGen has developed various other resources and tools to support curation. Visit our Resources and Tools page to learn more.

Want to get involved in ClinGen activities?

We look forward to collaborating with you! Here are some ways to participate:

Contact ClinGen

General Inquiries

For questions related to ClinGen, please contact clingen@clinicalgenome.org
 

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