Ingenuity® Variant Analysis™ Enables Rapid Identification of Causal Variants From Human Resequencing Studies


Ingenuity® Variant Analysis™ Enables Rapid Identification of Causal Variants From Human Resequencing Studies

Web application drills down to meaningful variants in minutes


REDWOOD CITY, Calif., Feb. 15, 2012 /PRNewswire/ -- Ingenuity Systems, a leading provider of information and analysis solutions for life science researchers, today announced the general availability of Ingenuity® Variant Analysis™, a web application designed to help researchers studying human disease rapidly identify causal variants from human resequencing data. Researchers can quickly and reliably take a list of millions of variants down to the most compelling set of variants for follow-up study and analysis.

Ingenuity Variant Analysis supports individual whole genome or exome studies with thousands of samples without deleting data sets. Unlike other software products that focus only on called and annotated variants, Ingenuity Variant Analysis streamlines the annotation and prioritizing of all variants through rich biological interpretation and analysis.  Its unique combination of filtering, analytics, and richly annotated content allows researchers to identify and prioritize variants by drilling down to a small, targeted subset of compelling variants based both upon published biological evidence and the researcher's own knowledge of disease biology.  

"Several years ago I resigned myself to the challenge of identifying genetic variants in my daughter's DNA that might account for her decreased muscle and other findings that together constituted an undescribed syndrome. My own clinical experience and my recent work with has made plain the fact that there are many undiagnosed and even novel cases involving genetics that sets off similar quests for many other families and their physicians," said Dr. Hugh Young Rienhoff, a physician and Director of My Daughter's DNA. "To see this step forward, of making genome analysis a more manageable challenge for the majority of us who do not write code or have the services of a bioinformatician, is heartening. Ingenuity Variant Analysis allows the user to browse sequence data in an intuitive manner both posing hypotheses and generating them. This is an important advance allowing a far greater number of users to together unlock the full potential of Next Generation Sequencing."

"Ingenuity Variant Analysis provides a fast, interactive experience for biological interpretation of variants from resequencing studies that's really fun to use," commented Anup Madden, Ph.D., Genomics/Sequencing Team Leader, Covance Genomics Laboratory.   "Without training, we were able to sit down with this software and in less than 2 hours we identified variants that stratified a population of drug responders from non-responders that have really compelling biological support based on the drug's mechanism of action.  We can interactively ask biological questions and get real-time insights to prioritize variants using Ingenuity's Knowledge Base of curated up-to-date pathways, processes, models, variant, drug and disease findings from the literature."

"We focused on creating a solution that enables researchers to reliably identify and prioritize the most biologically relevant variants from DNA resequencing studies," said Doug Bassett, Ph.D., Chief Scientific Officer and Chief Technology Officer, Ingenuity Systems. "Using Ingenuity Variant Analysis, researchers can leverage the combination of analytics and rich content to identify causal variants for a rare disease, identify driver variants for a particular cancer of interest, or identify candidate DNA biomarkers – all within minutes."

About Ingenuity® Variant Analysis™

Ingenuity Variant Analysis is a web application that enables researchers to identify causal variants from human resequencing data in just minutes, using known information about the biological effects of variants.  Ingenuity Variant Analysis uses the accurate, curated biological content in the Ingenuity® Knowledge Base, plus many additional sources of variant-level content, to help researchers studying genetics and disease biology quickly sift through millions of variants to identify a few causal variants based upon known relationships with pathways, genes, biological processes, and diseases. For more information visit: .

About Ingenuity® Systems

Ingenuity Systems is a leading provider of information and analysis solutions for life science researchers, computational biologists and bioinformaticists, and life science industry suppliers.  For more information visit:


SOURCE Ingenuity Systems
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