Sample to Insight
Click here to learn more

Case Study: Educational Institution and Ingenuity Variant Analysis


  • Solved the following challenges by deploying Ingenuity Variant Analysis:
    • Realized faster and easier identification of causal variants
    • Reduced IT infrastructure costs
    • Improved access to biological content including primary sources
    • Improved sharing and collaboration capabilities
    • Reduced the need for developing own informatics pipeline
    • Eliminated the need for creating and maintaining own up-to-date database of biomedical literature
    • 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
    • Access user friendly interface and no bioinformatics experience needed
    • Secure web application that is HIPAA and Safe Harbor compliant
    • Scale from small to large studies
    • Collaborate and share easily with colleagues and peers

Use Case

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


  • Chose Ingenuity Systems over the following solutions:
    • In-house developed software
  • Saves > 3 days per sample using Ingenuity Variant Analysis for DNA variant annotation and analysis.
  • Reduced time to results by > 75% by using Ingenuity Variant Analysis for DNA variant 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)
    • Accurate evidence: 3 (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.


user-green2 “Ingenuity Variant Analysis has massively reduced the time it takes to filter variants for prioritization. I can do any type of filtering I like while using the same computational protocol in an intuitive, user friendly interface.”

Post Doctoral Researcher, Educational Institution

Source: TechValidate. TVID: 130-F6D-5DC