NCBI Medical Genetics and Human Variation

  • Booth: 531

Catch up with the NIH GTR, ClinVar, MedGen and More. #NCBI


11,000 conditions, 5,800 genes, 376,000 variants and 53,000 genetic tests in 100 square feet. The National Center for Biotechnology Information (NCBI) at NIH advances science and health by providing access to biomedical and genomic information. The Medical Genetics and Human Variation (MGV) group encompasses many resources you can incorporate in your clinic or laboratory, including: · Clinical Variation: ClinVar, ClinGen Dosage Sensitivity Site, GeT-RM Browser · Medical Genetics: NIH Genetic Testing Registry (GTR), MedGen, MGS, GeneReviews · Research Variation & Tools: dbSNP, dbVar, Variation Viewer · Human Genotypes & Phenotypes: dbGaP, PheGenI, Molecular QTL Browser · Even More: OSIRIS, Literature resources, Services & Tools: SPDI, Population analysis Visit us to see what’s coming in 2018, including increased access to high-value information on genetic conditions, disease nomenclatures, clinical and research genetic testing, pharmacogenetics and variation with medical implications. Learn more about ClinVar, which houses over 376,000 unique variants and clinical significance interpretations of such variations. We can demonstrate how to efficiently use ClinVar, ways to incorporate the data into clinical care, and how to submit new variation interpretations. Explore some of the ways we are using customer feedback to guide future development, and learn how to become more involved. Get hands-on help with several of our onsite medical genetics staff. Contact us at anytime!