National Network of Libraries of Medicine
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5 Clinical Questions you can answer with NCBI databases (GTR, ClinVar, MedGen)

Class Details

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?
2. How do I locate records for a specified list of symptoms, clinical features (e.g., aortic aneurysm)?
3. How do I find specific disease-causing variants?
4. How can I get information about the review status of an assertion of clinical significance for a genetic variant in relation to a disease?
5. What are the differences between the NCBI medical genetics databases regarding searching for phenotypes / clinical features?

A basic familiarity with genetics vocabulary will be helpful in understanding this Webinar. For a review, see The New Genetics, an educational booklet by the National Institute of General Medical Sciences (NIGMS).

Presented by Peter Cooper & Bonnie Maidak, PhD, NCBI Staff Scientists

Course Materials and Handouts available here.

Wednesday, September 20, 2017
1:00pm - 2:00pm
Region/Office: National
Sep 20, 2017
1:00PM - 2:00PM ET
Molly Knapp, MA, AHIP, Training Development Specialist

Class Overview

Bioinformatics Education introduces different topics and NCBI databases that support bioinformatics education and discovery, including the NCBI databases Nucleotide, Gene, Structure and Protein.

Bioinformatics and Biology Essentials For Librarians: Databases, Tools, and Clinical Applications is an introductory, online bioinformatics course for librarians using the Moodle learning management system.  It is 16 week,  self-paced course worth 30 hours of CE credit from the Medical Library Association. It is designed both for librarians who offer, or intend to offer, bioinformatics services; and also for librarians who use bioinformatics information on a periodic or irregular basis to serve their patrons.  This course is offered twice a year, generally Jan - May and Aug - Dec. 

  • Gain a functional understanding of molecular biology concepts sufficient to use the NCBI bioinformatics databases
  • Define bioinformatics, describing some research questions that scientists are exploring now using bioinformatics tools and techniques
  • For the Nucleotide, Gene, Structure and Protein databases:
    • Describe what kinds of information are contained
    • Develop a search strategy for common patron questions
  • Identify where genetic and protein data comes from, and describe data quality concerns
  • Answer common patron questions, referring to appropriate databases
  • Find genetic information that is translated to clinical application
  • Explore the roles and activities of other librarians working in bioinformatics
  • Discuss public policy and ethical implications of bioinformatics data storage, access and use
  • Direct others to experts and sources of assistance