NCBI Resources for Genetic Disease Discovery & Clinical Support
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.
Due to curricular and technical limits, we’ve capped the number of spots to provide the best workshop experience. If you register to apply, you will be notified of your application status 2 weeks before the scheduled event.
We recommend having access to a stable internet connection and modern web browser on a laptop or desktop computer to be able to successfully participate in the hands-on exercises.