Tools and Databases
ClinGen:
Resource dedicated to harnessing both research data and the data from the hundreds of thousands of clinical genetics tests being performed each year
Resource dedicated to harnessing both research data and the data from the hundreds of thousands of clinical genetics tests being performed each yearThe ClinGen Resource
ClinGen is a National Institute of Health (NIH)-funded resource dedicated to 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 to determine which variants are most relevant to patient care. In 2013, the National Human Genome Research Institute (NHGRI) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (subsidiaries of NIH) awarded three grants totalling 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.
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