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Department of Genetics

Clinical Genome Resource

ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to determining which genetic variants are most relevant to patient care by harnessing both research data and the data from the hundreds of thousands of clinical genetics tests being performed each year, as well as supporting expert curation of these data. In 2013, the National Human Genome Research Institute (NHGRI) along with the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Cancer Institute (NCI) awarded over $25 million dollars to support a consortium of research groups to design and implement a framework for evaluating which variants play a role in disease and those that are relevant to patient care. The groups will work closely with the National Center for Biotechnology Information (NCBI) of the National Library of Medicine (NLM), which will distribute this information through its ClinVar database. Learn about each of the groups involved in the ClinGen Resource, their individual charges, and their collaborative efforts on their website www.clinicalgenome.org

Key Goals

Several key goals support our overall mission of raising the quality of patient care:

  • Sharing genomic and phenotypic data through a centralized database for clinical and research use
  • Standardizing the clinical annotation and interpretation of genomic variants
  • Improving our understanding of variation in diverse populations to improve interpretation of genetic testing on a global scale
  • Developing machine-learning algorithms to improve the throughput of variant interpretation
  • Implement evidence-based expert consensus for curating genes and variants
  • Assessing the actionability of genes and variants to support their use in clinical care systems
  • Disseminating the collective knowledge and resources for unrestricted use in the community