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Case Study: Cornell University 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
    • Improved sharing and collaboration capabilities
    • Eliminated the need for creating and maintaining own up-to-date database of biomedical literature
    • 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
    • Collaborate and share easily with colleagues and peers

Use Case

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


  • Chose Ingenuity Systems over the following solutions:
    • VAAST / Omicia
  • 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: 5 (strongly differentiated)
    • Accessibility/ ease of use: 5 (strongly differentiated)
    • Sharing with colleagues/peers: 5 (strongly differentiated)
    • Security: 5 (strongly differentiated)
  • Is extremely satisfied with the ease of use of Ingenuity Variant Analysis.


Pankaj_Photo_1“Identifying the causal variants supported by high confidence literature is the key thing in which our institute is interested. Ingenuity makes it so simple and easy. [Our] thanks to Ingenuity.”

Pankaj Kumar, Research Analyst, Cornell University

Source: TechValidate. TVID: DEB-C46-1B1