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Case Study: ARUP Laboratories 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
    • Reduced the need for developing own informatics pipeline
    • Eliminated the need for creating and maintaining own up-to-date database of biomedical literature
  • Purchased Ingenuity Variant Analysis for the following reasons:
    • Access rich biological content in Ingenuity Knowledge Base plus additional sources of variant level content
    • Increase trust in the insights received from experiment
    • Access user friendly interface and no bioinformatics experience needed
    • 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
    • DNA sequencing – Targeted / Gene Panel
  • Sequencing data is from the following platforms:
    • Illumina MiSeq
    • Illumina Genome Analyzer (GA) / HiSeq
    • Ion Torrent PGM
    • Complete Genomics


  • Chose Ingenuity Systems over the following solutions:
    • Cartagenia
    • Knome
    • VAAST / Omicia
    • In-house developed software
  • Saves 1 to 3 days per sample using Ingenuity Variant Analysis for DNA variant annotation and analysis.
  • Reduced time to results by 10 to 49% 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: 4 (very differentiated)
    • Accessibility/ ease of use: 4 (very differentiated)
    • Sharing with colleagues/peers: 5 (strongly differentiated)
  • Is very satisfied with the ease of use of Ingenuity Variant Analysis.


david_crockett_1“[Ingenuity Variant Analysis] provides easy access to excellent gene variant interpretation, especially for those without a bioinformatics background. It has also greatly reduced the time from variant call to seeing “final” results.”

David Crockett, Director, Bioinformatics, ARUP Laboratories

Source: TechValidate. TVID: BC7-2D3-38C