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Case Study: Governmental Research Institute and Ingenuity Variant Analysis

Challenges

  • Solved the following challenges by deploying Ingenuity Variant Analysis:
    • Realized faster and easier identification of causal variants
    • Improved access to biological content including primary sources
    • Enabled independent study without the need for specialized bioinformatics skills
    • Enabled support for more studies by providing a self-service tool for colleagues and collaborators
  • Purchased Ingenuity Variant Analysis for the following reasons:
    • Access rich biological content in Ingenuity Knowledge Base plus additional sources of variant level content
    • Reduce time to identify variants worth following up on
    • Identify high impact, most compelling variants to follow up on

Use Case

  • Uses the following applications with Ingenuity Variant Analysis:
    • DNA sequencing – Whole Exome
  • Sequencing data is from the following platforms:
    • Illumina Genome Analyzer (GA) / HiSeq

Results

  • Chose Ingenuity Systems over the following solutions:
    • ANNOVAR
  • Saves > 3 days per sample using Ingenuity Variant Analysis for DNA variant annotation and analysis.
  • Reduced time to results by 50 to 74% by using Ingenuity Variant Analysis for DNAvariant annotation and analysis.
  • Rated the following Ingenuity Variant Analysis capabilities in terms of how differentiated they are compared to other data analysis solutions:
    • Speed: 5 (strongly differentiated)
    • Accessibility/ ease of use: 5 (strongly differentiated)
    • Sharing with colleagues/peers: 5 (strongly differentiated)
  • Is extremely satisfied with the ease of use of Ingenuity Variant Analysis.

Testimonials

user-green2“The biggest advantage of Ingenuity compared to other tools is that it is very user-friendly and very fast. I have bioinformatics skills, but it is very easy and convenient to use and share with colleagues who have none. Also, I love the fact that pathways and biological knowledge from genes and diseases are integrated in this tool.”

Post Doctoral Researcher, Federal Government


Source: TechValidate. TVID: F84-87C-7C6