Tag: MedGen

Questions about GTR, ClinVar, or MedGen? Ask us at ASCO 2017!

NCBI will be exhibiting at the ASCO Annual Meeting 2017 from June 2-6.

Exhibit Hall Booth #3046

ASCO attendees can get navigation tips and hands-on help with GTR and ClinVar submissions, take handout materials and meet with Adriana Malheiro, MS* at Booth #3046.

Booth times:

Saturday, June 3 – 9AM–5PM
Sunday, June 4 – 9AM–5PM
Monday, June 5 – 9AM–5PM

*Contact us to schedule a meeting with Adriana Malheiro, MS.

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NCBI’s 3 Newest Medical Genetics Resources: GTR, MedGen & ClinVar

GTR_ClinVar_MedGen imageNCBI has three relatively new online resources for information about genetic tests, genetic conditions, and genetic variations:

  • The Genetic Testing Registry, or GTR – a registry of genetic tests for heritable and somatic changes in humans
  • MedGen – a medical genetics portal that focuses on information about medical conditions with a genetic component
  • ClinVar – an archival database that contains reported assertions about the relationship between genetic variations and phenotypes

This blog will provide a very brief overview of the three resources by outlining some of their content features. For a more thorough introduction to the three resources, including the types of information available in each and how to use them, we recommend viewing this approximately hour-long webinar that we conducted in June 2014.

Continue reading “NCBI’s 3 Newest Medical Genetics Resources: GTR, MedGen & ClinVar” →