Variant Filtering and Interpretation Using Ingenuity Variant Analysis (IVA) and HGMD

  • Registration Closed
  • May 08, 2018
  • 09:30 AM to 12:30 PM
  • NIH Library Training Room

Bioinformatics is an interdisciplinary field that develops methods and software tools for understanding biological data. As an interdisciplinary field of science, bioinformatics combines computer science, statistics, mathematics, and engineering to analyze and interpret biological data.

The NIH Library provides access to many analysis tools and databases on the bioinformatics workstations. Reservations are required to use the workstations.

Session Description

The NIH Library Bioinformatics Support Program is presenting a Variant Filtering and Interpretation Using Ingenuity Variant Analysis (IVA) and HGMD class on Tuesday, May 8th, 9:30AM to 12:30PM in the NIH Library training room, Building 10. Even if the class is full, please sign up for the waitlist and plan on attending the class. When the class begins, empty seats will be filled on a first-come, first-served basis by waitlisted students who arrive early and sign in. An effort is made to accommodate everyone.

QIAGEN’s Ingenuity Variant Analysis (IVA) combines analytical tools and integrated content to help you rapidly identify and prioritize variants by drilling down to a small, targeted subset of compelling variants based on published biological evidence and your knowledge of disease biology. IVA allows you to interrogate variants from multiple biological perspectives, explore different biological hypotheses, and identify the most promising variants for follow-up. This workshop will focus on how to use IVA to upload datasets, efficiently use different filters within variant analysis to identify causal variants, and export data. The class will also review recent IVA updates.

The Human Gene Mutation Database (HGMD) database provides quick access to known published gene lesions responsible for human inherited disease. This session will explore how to query genes and mutations in HGMD and how to view the curated content.

Go to the NIH Library Bioinformatics Support Program page to learn more about the program. For more information on how to access the NIH Library’s IVA and HGMD licenses, please visit nihlibrary.nih.gov/services/bioinformatics-support/analysis-tools-databases.

 

 

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