Discovering Molecular Mechanisms of Genetic Disorders with NCBI Resources

Discovering Molecular Mechanisms of Genetic Disorders with NCBI Resources

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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. By linking these with newer resources designed to assist the clinical community, it is now often possible to glean an understanding of how a patient’s genetic variant may be impacting their particular biology. This online, interactive workshop is designed for biological researchers interested in tracing the effect of a genetic variant from the biological sequence to the molecular level.

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

  • Find a MedGen record with links to various literature resources to learn more about a proposed diagnosis
  • Identify a relevant diagnostic genetic test in GTR
  • Learn about an identified genetic variant using ClinVar and dbSNP
  • Explore the affected gene and gene product using Gene
  • Map the variant onto the gene product’s structure to predict impact on its structure and function
  • Use the above information to attempt to understand 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.

Please note: This workshop is designed for researchers with significant molecular biology background and an interest in digging down to the molecular level to understand the mechanisms behind molecular pathology.

On April 14, 2023, we are offering a shorter, more targeted workshop specifically designed for practicing clinicians. If you are interested in how genetic variation information can be used to optimize patient care, please consider applying for that workshop.

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.

Please see our FAQs page for more information and if you still have questions about the NCBI Outreach Events program or this specific workshop, email us at .

To register for this event please visit the following URL: →


Date And Time

2023-05-23 @ 01:00 PM (EDT) to
2023-05-23 @ 04:00 PM (EDT)

Registration End Date



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