5 Clinical Questions You Can Answer with NCBI Databases*

For more information or to schedule this course, please contact Molly Knapp, AHIP <molly.knapp@utah.edu>.

Course URL: https://nnlm.gov/classes/bioinformatics-education

In this webinar, you will learn about the NCBI databases GTR, ClinVar, and MedGen and how to use them to answer the following questions:

  1. How do I locate tests for a clinical feature, gene or disease in GTR ?
  2. What do the stars mean in in the ClinVar database and why are they important?
  3. How do I locate MedGen db records for a specified list of symptoms, clinical features (e.g., aortic aneurysm)?
  4. How do I locate tests for a clinical feature, gene or disease in GTR?
  5. What are the differences between MedGen, ClinVar, and GTR regarding searching for phenotypes / clinical features?

Learning Objectives

At the end of the webinar, users will be able to: 

  • Determine disease causing variants for a gene or phenotype
  • Explain what the stars mean in the ClinVar database and why they are important (review status/level of evidence)
  • Locate MedGen db records for a specified list of symptoms, clinical features (e.g., aortic aneurysm)
  • Locate tests for a clinical feature, gene or disease in GTR
  • Compare MedGen, ClinVar, and GTR regarding searching for phenotypes / clinical features

Timed Agenda

15 mins - introduction, pretest

30 mins – database demo & hands on exercise

15 mins – bring your own questions, post test

Instructor: Molly Knapp, AHIP

MLA CE Credits: 1