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NCBI Resources for Genetic Disease Discovery & Clinical Support

On October 26, 2021, the NCBI Education Team provided a workshop on NCBI Resources for Genetic Gene Discovery and Clinical Support. Training materials from this event are available on this page.

NCBI has long had resources for biologists to explore what is known about genomes, genes and genetic variations, but has recently developed clinically-focused resources. This online, interactive workshop is designed for those involved in clinical practice and/or translational research.

Based on a real-world case study, you will learn how to:

  • Find a MedGen record with links to various literature resources to assist in clinical decision support and patient education
  • Identify a relevant diagnostic genetic test and examine sample test results
  • Based on an identified genetic variant, explore the affected gene and gene product with regard to structure and function
  • Explain the patient’s disease etiology and effectiveness of therapeutic interventions

Keyboard controls: Space bar - toggle play/pause; Right and Left Arrow - seek the video forwards and back; Up and Down Arrow - increase and decrease the volume; M key - toggle mute/unmute; F key - toggle fullscreen off and on.


Return to NCBI Outreach Events.

Last Reviewed: October 25, 2021