NCBI at the ACMG meeting in Seattle next week (April 2-6, 2019)


In about a week, NCBI staff will join GeneReviews® on their home turf, Seattle, at the Annual Clinical Genetics Meeting hosted by the American College of Medical Genetics and Genomics (ACMG). While there we will have an exhibit booth (#531) where you can meet our staff, get answers to your questions, and pick-up informative handouts on our various resources for clinical practice.

Also, be sure to visit our two posters on Friday, April 5 from 10:30 AM to 12 PM.

  1. If you submit data to ClinVar stop by poster 834 to see ClinVar’s latest improvements to make it easier to update a single SCV record.

Poster 834 “ClinVar Makes Updates Easy: A New Online Form to Update a Single SCV”

The poster presentation will have more details about the online form such as the available fields to update and examples of when to update an SCV record.

2. Not sure what NCBI has to offer a clinician? Be sure to visit poster 644.

Poster 644 “Epilepsy: Genetic Diagnosis and Optimized Therapy using NCBI Resources”

This poster provides a case study for clinicians on how to use NCBI’s free online suite of precision medicine resources in a genetics clinic. The example will walk you through NCBI’s resources and show you how to:

  • Get help diagnosing patients presenting a genetic disorder and access resources to help manage care from MedGen
  • Select the most appropriate test to diagnose your patient or to guide therapy in the Genetic Testing Registry (GTR)
  • Gather drug information and testing strategies to optimize drug therapy in the Medical Genetics Summaries (MGS)

To stay up-to-date about NCBI staff activities at ACMG 2019, follow us on Twitter at @NCBI_Clinical ‏and @NCBI. And be sure to stop by booth #531 to provide  feedback and get answers to your questions.

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Google photo

You are commenting using your Google account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s