Variant Analysis Winter 2017 Release

With our latest release, Ingenuity Variant Analysis can now accept copy number variations specified in the VCF input.
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Release summary


Ingenuity Variant Analysis

With Ingenuity Variant Analysis™, you can find disease-causing variants faster, and with fewer false leads, by tapping into the knowledge of millions of scientific findings. Based on 16+ years of expert manual curation of the scientific literature, our Knowledge Base is the gold standard for genome interpretation. By indexing all known disease-causing biological processes, we can deliver new insights and increased likelihood of homing in on the causal variant you’re seeking.

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Access thousands of genomes instantly

It can be expensive and time-consuming to study the number of genomes it takes to understand a disease. Ingenuity Variant Analysis is your gateway to extensive cohorts of high-quality, ethnically and phenotypically diverse human genome samples. They provide a set of healthy controls for rapid discovery and validation of causal elements of disease.

 


 

By using the filtering in Ingenuity Variant Analysis, we were able to find the gene which then led to the identification of this syndrome.

Dr. Hywel Williams, Centre for Translational Omics in the University College London’s Institute of Child Health (GOSgene)


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System requirements

Windows Internet Browsers

  • Internet Explorer v.9 or later
  • Firefox v.6 or later
  • Chrome v18 or later
Mac Internet Browsers

  • Safari v.5 or later
  • Firefox v.11 or later
  • Chrome v.18 or later

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