NIH Genetic Testing Registry/ClinVar/MedGen

8600 Rockville Pike
Rockville,  MD  20894

United States
https://www.ncbi.nlm.nih.gov/guide/genetics-medicine/
  • Booth: 3046

The National Center for Biotechnology Information (NCBI) at NIH advances science and health by providing public access to biomedical and genomic information. Resources for medical genetics include MedGen, the Genetic Testing Registry (GTR) and ClinVar. MedGen aggregates high-value information about conditions and phenotypes and maps disease nomenclatures. GTR has intuitive, efficient pathways to locate genetic tests that fit your needs, including liquid biopsies. ClinVar is a growing resource of clinical significance interpretations of sequence variation provided by submitters.


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