Navigation Links
Ingenuity Systems Announces Curation of All Human Disease Implicated Genetic Variation
Date:2/20/2013

REDWOOD CITY, Calif., Feb. 20, 2013 /PRNewswire/ -- Ingenuity® Systems, a leading provider of biomedical information and analysis solutions, today announced that the company will complete comprehensive curation of all human phenotype-implicated mutations in the peer-reviewed biomedical literature. The comprehensive curation of hereditary, cancer and pharmacogenetic mutations will be integrated into the Ingenuity Knowledge Base and made available in Ingenuity® Variant Analysis™, a web-based analysis application that enables rapid identification of causal variants for human diseases from sequencing data.

"Human genome interpretation requires up-to-date, accurate and comprehensive information on populations' variant frequencies, causal network interactions, curated disease models and evidence from the biomedical literature in order to establish strong links from variants, genes and pathways to diseases and optimal treatment," said Dr. Christopher E. Mason , Assistant Professor, Weill Cornell Medical College. "Ingenuity's commitment to provide ready access to high-quality, comprehensive and structured biomedical content will enable us to achieve the next level of fast, in-depth genome interpretation that is so critical to unlocking the full potential of personalized and precision medicine."

The Ingenuity Knowledge Base is a 14 year effort to accurately, manually curate and computationally structure the biomedical literature, all human disease implicated variants and the thousands of disease models all of which are critical for the interpretation of NGS sequence data and the clinical assessment of variants observed in molecular diagnostic panels.

"This game-changing effort to richly curate and structure all published mutations has been underway for years," said Dr. Doug Bassett , Ingenuity Systems, Chief Scientific Officer and Chief Technical Officer. "We are very close to completing the curation of all hereditary, pharmacogenetic and cancer mutations this year and then will maintain up-to-date coverage going forward. Millions of expert-curate findings from the biomedical literature are already available to users of Variant Analysis establishing rich relationships between and among variants, genes, protein and therapies to enable rapid identification of causal and actionable variants."

About Ingenuity® Systems

Ingenuity® Systems is a leading provider of biomedical information and analysis solutions for the exploration, interpretation and analysis of complex biological systems in life science research and molecular diagnostics. Today, Ingenuity's solutions are used by tens of thousands of researchers and clinicians at hundreds of leading pharmaceutical, biotechnology, academic, diagnostic and clinical institutions worldwide.


'/>"/>
SOURCE Ingenuity Systems
Copyright©2012 PR Newswire.
All rights reserved

Related biology technology :

1. Ingenuity Systems Announces Compliance with HIPAA
2. At RSNA, DR Systems Will Exhibit RIS, Reporting, Peer Review Systems
3. Clionsky Neuro Systems (CNS-Neuro) Announces Publication of Study Finding Elderly Patients Unable to Recognize Their Memory Loss
4. Dicom Systems and USARAD.com Announce Partnership and Introduce Beta Version of XMRI.com, New System by USARAD.com
5. BioPower Systems Awarded $5 Million from Victorian Government
6. Varian Medical Systems Schedules First Quarter FY2012 News Release and Conference Call
7. Quanterix Develops Microfluidic Consumable That Will Enable Next Generation Molecular Diagnostic Systems based on Single Molecule Array Technology
8. CMC Biologics Strengthens its Innovative Biomanufacturing Technology Portfolio in Continuous Perfusion Systems
9. MarketsandMarkets: Global Clinical Trial Management Systems Market Worth $1300.4 Million by 2016
10. A new class of electron interactions in quantum systems
11. AMPAC Fine Chemicals Continues to Invest in Quality Systems
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:1/13/2017)... ... January 13, 2017 , ... FireflySci, in response ... customers three new solutions for measurements where traditional cuvette applications are not convenient. ... has an oddly-shaped sample that would not fit into a typical cuvette inside ...
(Date:1/12/2017)... , ... January 12, 2017 , ... Each year, Crain’s ... Index – a process that evaluates the patent estate of a company, its impact ... , a biomedical firm leading the way in technologies that transform energy sources such ...
(Date:1/12/2017)... , ... January 12, 2017 , ... Huffman Engineering, ... Stephen Beck, who will work in the company’s Lincoln office as a chemical engineer. ... to design control systems for customers in the life science manufacturing and water/wastewater industries. ...
(Date:1/12/2017)... January 12, 2017 The Energy ... biggest facility for producing mycorrhizae. The Centre for Mycorrhizal ... potential of mycorrhizae and developed a technology that eventually ... ... The TERI facility has a production ...
Breaking Biology Technology:
(Date:1/12/2017)... , Jan. 12, 2017  New research undertaken by ... of the future.  1,000 participants were simply asked which office ... which we may consider standard issue.  Insights on what ... were also gathered from futurists and industry leaders including ... James Canton .  Some of these ...
(Date:1/11/2017)... BRUNSWICK, N.J. , Jan. 11, 2017  Michael Johnson, co-founder ... Foundation Venture Capital Group, Inc., has been named to the elite ... Johnson, 27,  was one of 600 people in 20 fields nationwide ... four percent of the 15,000 applicants were selected. ... He is currently a PhD candidate ...
(Date:1/6/2017)...  Delta ID Inc., a leader in consumer-grade iris ... at CES® 2017. Delta ID has collaborated with Gentex ... use of iris scanning as a secure, reliable and ... a car, and as a way to elevate the ... Delta ID and Gentex will demonstrate (booth #7326 LVCC) ...
Breaking Biology News(10 mins):