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Case Study: Small Pharmaceutical Company and Ingenuity Variant Analysis


  • Solved the following challenges by deploying Ingenuity Variant Analysis:
    • Realized faster and easier identification of causal variants
    • Reduced the need for developing own informatics pipeline
    • Enabled independent study without the need for specialized bioinformatics skills
  • Purchased Ingenuity Variant Analysis for the following reasons:
    • Reduce time to identify variants worth following up on

Use Case

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


  • Chose Ingenuity Systems over the following solutions:
    • PLINK
  • 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: 4 (very differentiated)
    • Sharing with colleagues/peers: 3 (differentiated)
    • Security: 3 (differentiated)
  • Is very satisfied with the ease of use of Ingenuity Variant Analysis.


user-green2“The Ingenuity Variant Analysis platform allowed us to start analyzing our samples faster than building our own informatics pipeline. It also made it easier to customize the analytical approach. The filter settings could be easily modified. Overall it made analysis easier and faster.”

Primary Investigator, Small Pharmaceuticals Company

Source: TechValidate. TVID: E53-A16-337