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Case Study: QIMR and Ingenuity Variant Analysis


  • 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
  • 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

Use Case

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


  • Chose Ingenuity Systems over the following solutions:
    • In-house developed software
  • Saves 4 to 8 hours 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:
    • Accurate evidence: 4 (very differentiated)
    • Accessibility/ ease of use: 5 (strongly differentiated)
    • Sharing with colleagues/peers: 3 (differentiated)
  • Is extremely satisfied with the ease of use of Ingenuity Variant Analysis.


user-green2“[The] reduced reliance on our bioinformatics team allows for faster turn around for us, and thus greater availability of that team for other projects. The findings link to the supporting literature, which assists in identifying all the evidence that may otherwise have been missed.”

Cameron McDonald, Post Doctoral Researcher, QIMR

Source: TechValidate. TVID: 8BF-B8E-936