NCBI Resources for Genetic Disease Discovery & Clinical Support

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NCBI Resources for Genetic Disease Discovery & Clinical Support

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This workshop concluded on October 26, 2021. Workshop materials are available here.

Workshop Description:

The use of genetic testing in patient care is becoming more common in clinical practice. 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

This module ends with a session where you will be given your own case study to solve.

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Date And Time

2021-10-26 @ 01:00 PM (EDT) to
2021-10-26 @ 04:00 PM (EDT)

Registration End Date



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