Variant Filtering and Interpretation Using IVA and HGMD

  • Registration Closed
  • Oct 03, 2017
  • 09:00 AM to 02:00 PM
  • NIH Library Training Room

Session Description

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) represents an attempt to collate known (published) gene lesions responsible for human inherited disease. The afternoon 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.

Sign language interpreters and other reasonable accommodations can be provided. If you require such accommodations, please contact the NIH Library Information Desk at 301-496-1080 five business days in advance. For TDD users/callers, please call the above number through the Federal Relay Service at 1-800-877-8339.

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