Identify causal variants from human sequencing data in just hours
Rapidly Identify and Prioritize Variants
Ingenuity Variant Analysis combines analytical tools and integrated content to help you rapidly identify and prioritize variants by drilling down to a small, targeted subset of compelling variants based both upon published biological evidence and your own knowledge of disease biology. With Variant Analysis, you can interrogate your variants from multiple biological perspectives, explore different biological hypotheses, and identify the most promising variants for follow-up.
"Being a bioinformatician, I appreciated the speed and the complexity of analysis. Without Variant Analysis, I couldn't have completed the analysis of 700 exomes in such a short time .... I found Variant Analysis very intuitive and easy to use."
Francesco Lescai, Senior Research Associate in Genome Analysis, University College of London.
Fast
Identify causal variants in hours instead of months.
Knowledge-driven
Apply a knowledge-driven approach to identifying causal variants using millions of computable, expert-curated findings from the peer reviewed biomedical literature.
User friendly
Easily analyze your data with the application, without the need for bioinformatics experience or support.
Scalable and Secure
Scale from small tumor or hereditary experiments up to large association studies within a secure web application.
Easy to purchase
Purchase analysis on a priced-per-sample basis.
Easy to implement
Implement web-based analysis without the need for software infrastructure or integration.
Interactive filtering with integrated and accurate evidence to rapidly prioritize data for faster results
Multi-family pedigree support
Select for variants consistent with Mendelian inheritance.
Disease identification
Find diseases consistent with clinical features and deleterious variants in medical genomes.
Statistical burden testing
Find genes or pathways that have significantly more deleterious variants in one group than another.
The Ingenuity Knowledge Base
All of Ingenuity’s solutions leverage the Ingenuity Knowledge Base, a repository of expertly curated biological interactions and functional annotations created from millions of individually modeled relationships between proteins, genes, complexes, cells, tissues, drugs, and diseases. These modeled relationships, or Findings, include rich details, links to the original article, and are reviewed for accuracy by PhD scientists. The curated content in the Knowledge Base is structured into an Ontology that allows for contextual information, computation by the applications, and synonym resolution to ensure consistency across concepts. These features make the Ingenuity Knowledge Base distinctive and unparalleled to any other database.
Variant Analysis has a broad Set of Features that allow you to quickly understand and visualize your data
Intuitive, user-friendly interface
No bioinformatics skills needed. Easy to learn and use in your own workspace. No waiting for additional resources to get started.
Interactive Filter Cascade
Eliminate common and non-deleterious variants with a basic set of filters, quickly reducing the number of variants significantly. Apply additional filters based on your knowledge of disease, to further reduce the number of variants allowing you to go from millions to hundreds of interesting variants for follow on studies.
Iterative analysis
Variant Analysis mirrors the investigative process, allowing rapid application of a hypothesis, visualization and evaluation of results and re-iteration of the hypothesis for immediate results that speed discovery.
Sharing and Publication Tools
Easily collaborate with colleagues and peers. Export data and graphics to aid in manuscript preparation and publications.
Knowledge driven algorithms and analytics- Genetics, Functional Prediction, PLUS Biology
Keyword search within the Ingenuity ontology provides identification and prioritization of compelling variants using both your knowledge of disease, phenotypes, processes, and pathways, as well as the deep pathway information available in the Ingenuity Knowledge Base.
Causal Network Analytics
Identify variant in genes within 1- or 2- network “hops” of upstream or downstream genes. Understand not only known relationships, but also variants in genes that have relationships or interactions with those genes known to be associated.
Curated up to date content at your fingertips
No need to go search for publications on your own. Utilize a knowledge base containing millions of biomedical finding and mutations, accurate, updated and curated by experts, from the literature and public databases. Access up-to-date pathways, processes, models, genetic, drug and disease findings seamlessly, within a single easy to use interface.
Scalable processing capacity
Variant Analysis has been demonstrated to support study sizes ranging from individuals and trios to thousands of samples in a single analysis. Analyze thousands of samples simultaneously.
Explore Our Webinars and see how the scientific community has used Variant Analysis to create novel discoveries
Ingenuity Knowledge-Based Tools for Comprehensive Interpretation of Variant & Gene Expression Data [56:16 minutes]
Presented by Jean-Noel Billaud and Megan Laurance
Ingenuity Staff Scientists Jean-Noel Billaud and Megan Laurance present strategies for integrated analysis and interpretation of variant and gene expression data generated from cell lines representative of 2
breast cancer subtypes: Claudin-Low and Luminal. These subtypes represent different disease entities associated with specific molecular alterations and histo-clinical features. Interrogating these samples at both the variant and transcript level with Ingenuity's Variant Analysis and IPA software presents a powerful approach to drawing clear molecular
paths from variants and gene expression changes to phenotypes relevant to these disease subtypes including Epithelial-to-Mesenchymal Transition and Metastasis.
Improving Single Genome Annotation by Multi-Genome Analysis [37:32 minutes]
Presented by Gustavo Glusman, Senior Research Scientist, Institute for Systems Biology
This webinar discusses the analysis of whole genome sequence data in Alternating Hemiplegia of Childhood (ACH) samples using custom workflows and Ingenuity Variant Analysis platform to improve the sensitivity and specificity of genome interpretation.
Whole Genome Sequencing for Rare Clinical and Consanguineous Familial Cases [37:16 minutes]
Presented by Christopher E. Mason, Ph.D., Assistant Professor, Department of Physiology and Biophysics and the Institute for Computational Biomedicine; Affiliate Fellow of Genomics, Ethics, and Law, ISP, Yale Law School
Learn how to use Ingenuity® Variant Analysis™ to analyze whole genome sequencing data. Chris Mason, Ph.D., presents a case study where Variant Analysis was used to analyze data from rare clinical cases with extreme phenotypes from the NIH's Undiagnosed Disease program and a consanguineous family with neural-tube defects. You will learn how to pinpoint likely genes causing disease phenotypes and see how an integrated systems biology approach that leverages biological analysis can contribute to advancements in personalized medicine.
Ingenuity Knowledge-Based Tools for Comprehensive Interpretation of Variant & Gene Expression Data [56:16 minutes]
Presented by Jean-Noel Billaud and Megan Laurance, Ingenuity Systems
This Case study presents strategies for integrated analysis and interpretation of variant and gene expression data generated from cell lines representative of 2 breast cancer subtypes: Claudin-Low and Luminal. These subtypes represent different disease entities associated with specific molecular alterations and histo-clinical features. Interrogating these samples at both the variant and transcript level with Ingenuity's Variant Analysis and IPA software presents a powerful approach to drawing clear molecular paths from variants and gene expression changes to phenotypes relevant to these disease subtypes including Epithelial-to-Mesenchymal Transition and Metastasis.
Ingenuity Variant Analysis workflow in Ion Reporter Demonstration [4:17 minutes]
Presented by Ingenuity Systems
Overview video demonstrating the Ingenuity Variant Analysis workflow in Ion Reporter Software.
Rapid biological interpretation of human NGS data: Ingenuity Variant Analysis [59:14 minutes]
Presented by Ingenuity Systems
Biological interpretation of thousands of potentially deleterious variants is a bottleneck in extracting valuable insights from DNA resequencing studies, often requiring months of effort after completion of the reference genome alignment and variant calling steps. Ingenuity Variant Analysis is a fast, easy-to-use application that leverages an extensive knowledge base of millions of expert-curated mutation and biomedical findings from the literature to empower real-time interactive filtering and rapid prioritization of variants, enabling clinical researchers to quickly zero in on the few that are most compelling for follow-up. Using a combination of causal analytics, genetic analysis at the variant, gene, and pathway levels, and the ability to visualize how variants impact disease progression, we will demonstrate the application of a context-rich knowledge base to discover cancer driver variants and novel causal variants for human genetic disease.
A diverse group of researchers are using Variant Analysis to identify causal variants faster. Meet a few and learn more about how they are using Variant Analysis in their research.
"Being a bioinformatician, I appreciated the speed and the complexity of analysis. Without Variant Analysis, I couldn't have completed the analysis of 700 exomes in such a short time .... I found Variant Analysis very intuitive and easy to use."
Francesco Lescai, Senior Research Associate in Genome Analysis, University College of London.
"[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.
"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 Associate, Cornell University.
"[Ingenuity Variant Analysis] streamlines the analysis for our whole exome studies on the etiology of diseases."
Honggang Ye, Post Doctoral Researcher, The University of Chicago
Online Training
Support Documents
SCIENTIFIC POSTERS
VARIANT ANALYSIS VIDEOS
