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 Off
'/>"/>

SOURCE Ingenuity Systems
Copyright©2012 PR Newswire.
All rights reserved

0

GOOD

Page: 1 2

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:5/21/2013)... May 21, 2013 SoundConnect is pleased ... Microsoft Lync, for customers in Canada. Lync is ... and will allow businesses and organizations to collaborate and ... SoundConnect released Lync in the United States. With the ... the product release in Canada, SoundConnect now offers a ...
(Date:5/20/2013)... , May 20, 2013 ... Agricultural Research Service (ARS) in treatment of mastitis ... , Trials to begin in the second ... delivery technology company Phosphagenics Limited (ASX: POH, ... Agriculture,s (USDA) Agricultural Research Service (ARS) to develop and ...
(Date:5/20/2013)... May 20, 2013 Today, at the American ... , James McGough , M.D., ... the Semel Institute for Neuroscience and Human Behavior and ... at the University of California Los Angeles (UCLA), and ... Adolescent Psychopharmacology and ADHD at UCLA, presented the results ...
(Date:5/20/2013)... With bed bugs' presence come problems in various ... need to be eliminated, one must make sure that the ... And so to help bed bug sufferers get that done, ... bed bugs without using harmful pesticides. In it, the ... Bed Bug Bully. , According to My Cleaning Products, contrary ...
Breaking Biology Technology:SoundConnect Announces Microsoft Lync Release in Canada 2SoundConnect Announces Microsoft Lync Release in Canada 3Phosphagenics Signs Research Agreement with the Agricultural Research Service 2Positive Results Reported for Phase I Clinical Trial at UCLA for the Treatment of ADHD in Children Using External Trigeminal Nerve Stimulation (eTNS) 2Positive Results Reported for Phase I Clinical Trial at UCLA for the Treatment of ADHD in Children Using External Trigeminal Nerve Stimulation (eTNS) 3Positive Results Reported for Phase I Clinical Trial at UCLA for the Treatment of ADHD in Children Using External Trigeminal Nerve Stimulation (eTNS) 4Positive Results Reported for Phase I Clinical Trial at UCLA for the Treatment of ADHD in Children Using External Trigeminal Nerve Stimulation (eTNS) 5New Non Pesticide Discovery on How to Get Rid of Bed Bugs Tipped by My Cleaning Products 2
... Elsevier, the world-leading publisher of scientific, technical ... Hybrid Materials 2009: The First International Conference on ... in Tours, France, 15-19 March 2009. , ... annual growth in published papers in recent years ...
... Calif., March 6 Jazz,Pharmaceuticals, Inc. (Nasdaq: ... a live webcast of the company,s 2008 investor ... Eastern Time/7:00 a.m.,Pacific Time on Thursday, March 13, ... hours., Members of Jazz Pharmaceuticals, senior management ...
... CHESTER, Pa., March 6 VWR Funding, Inc., the,parent company of VWR International, LLC, a ... fourth quarter and year-end financial results., Who: ... Jack L. Wyszomierski, Executive Vice-President ... Financial Officer, When: Wednesday, ...
Cached Biology Technology:Hybrid materials: Exciting interdisciplinary field offering future solutions for industry 2VWR Funding, Inc. to Hold Fourth Quarter and Year-End 2007 Financial Results Conference Call 2
(Date:5/17/2013)... residents of all ages will celebrate the science ... on our daily lives during the inaugural Atlanta ... and educators from local museums, corporations, K-12 schools ... 40 different events for children and adults at ... http://atlantasciencefestival.org . , The annual Atlanta Science ...
(Date:5/17/2013)... 17, 2013, Shenzhen, China---- Why Tibetan antelope can ... Plateau? In a collaborative research published in ... and other institutes provide evidence that some genetic ... to harsh highland environments. The data in this ... genetic mechanisms and the biology of other ruminant ...
(Date:5/17/2013)... A new Dartmouth College study finds human-caused climate ... of tropical lizards, contradicting a host of recent ... rapidly warming planet. , The findings, which appear ... offer new hope for survival of a creature ... Most predictions that tropical cold-blooded animals, especially forest ...
Breaking Biology News(10 mins):First Atlanta Science Festival set for 2014 2The genome sequence of Tibetan antelope sheds new light on high-altitude adaptation 2Climate change may have little impact on tropical lizards 2
... Center working to produce the National Biomass and Carbon ... from nine project mapping zones. All NBCD2000 data products ... basis and free of charge from the NBCD2000 project ... combination of NASA satellite datasets, topographic survey data, land ...
... 2008, 10 a.m.The Nanoscale Science, Engineering, and ... and Technology Council,s Committee on Technology ... Nanotechnology Initiatives (NNI) strategy for addressing priority ... (EHS) aspects of nanomaterials. The full ...
... and fish in tropical coastal areas is often described ... in fact this cultivation has negative consequences for both ... Bergquist of Uppsala University, Sweden, has studied how policies ... cultivating of fish and shellfish in artificial ponds has ...
Cached Biology News:First datasets for national biomass and carbon dataset now available 2Strategy for nanotechnology-related environmental, health and safety research 2Global trade in tiger shrimp threatens environment 2
... an endoribonuclease, the RNA strand of ... origin, e.g. that of phage FX174, ... x poly(dT). RNase H produces ribonucleotides ... no activity is detected with polyribonucleotides ...
... Source: E. coli strain containing an overproducing clone ... catalyzes the formation of a phosphodiester bond between ... duplex DNA or RNA. It repairs single-stranded nicks ... will join both blunt-end and cohesive-end fragments of ...
Goat polyclonal to Haptoglobin ( Abpromise for all tested applications). Antigen: Affinity purified human haptoglobin. Entrez GeneID: 3240 Swiss Protein ID: P00738...
SHEEP ANTI BOVINE BETA-LACTOGLOBULIN A...
Biology Products: