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Discovering Molecular Mechanisms of Genetic Disorders with NCBI Resources

This workshop was given on May 23, 2023.

NCBI Faculty:  Rana Morris, PhD

Workshop Duration:  3 hours

Content Difficulty:  Intermediate

Target Audience:  Biology researchers and Clinicians who are interested in learning how to trace the effect of a genetic variant from the biological sequence to the molecular level and understand the impact on a person's biology.

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. 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. 

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

  • Find helpful information about a human disorder starting in the MedGen database
  • 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

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


Data Access Technology:  NCBI Website

NCBI Resources:  MedGen, Genetic Testing Registry, ClinVar, dbSNP, Gene, Genome Data Viewer, RefSeq, Protein, CDD, Graphical Sequence Viewer, Structure, iCn3D

Last Reviewed: April 28, 2023