Corporate Banner
Satellite Banner
Next Gen Sequencing
Scientific Community
 
Become a Member | Sign in
Home>News>This Article
  News
Return

CeGaT and Genomatix Finalists of Boston Children’s Hospital’s CLARITY Challenge

Published: Friday, November 09, 2012
Last Updated: Friday, November 09, 2012
Bookmark and Share
Free exomes project for six families and new variant analysis software.

CeGaT (Center for Genomics and Transcriptomics) GmbH, the Department of Prostate Cancer Research, Institute of Pathology, University Hospital Bonn and Genomatix Software GmbH were announced as finalist (Top 3) of the CLARITY challenge, organized by Boston Children’s Hospital.

The challenge was started in April 2012 by sending raw genome sequence data and medical records of three families (children and their immediate relatives) to 30 teams worldwide including BGI, NIH and other well-known genome centres.

Two of the patients had undiagnosed neuromuscular diseases, the other a cardiovascular disorder. In all cases current diagnostic tests gave negative results.

The aim of the CLARITY challenge was not only to solve the three cases but also to standardize methods for analyzing, interpreting, reporting and, ultimately, using genomic information in a clinical setting (http://genes.childrenshospital.org).

To achieve this, CeGaT and Genomatix Software successfully combined their expertise and services to solve the cases within the time limit given and identify best methods and practices to provide meaningful results to medical doctors, patients and their families.

The team was the only one to correctly flag every likely genetic mutation in all three families.

Saskia Biskup, Managing Director of CeGaT says: "I would like to take the opportunity to thank the organizers and sponsors for setting up the CLARITY challenge. It is a fantastic way to motivate and improve the necessary interaction between researchers and clinicians in order to bring next-generation sequencing to the "next" level. We are delighted that we have been selected as a finalist from the thirty competing teams. We were able to provide useful information for all three families, where the underlying genetic defect could be identified for the first time. In addition this gave us the opportunity to test CeGaT's interdisciplinary approach and know-how in the areas of technology, bioinformatics, biology, and medicine in a competitive setting. The CLARITY challenge has reassured us that our interdisciplinary approach is the future of diagnostics."

CeGaT and Genomatix will now offer their complete genetic analysis service to another six families (six trios or 18 exomes) for free.

The families will be selected on the basis of clinical manifestations with a yet unknown genetic cause. This free exomes project will build on the experiences gained in the CLARITY challenge and hopefully allow patients to find better treatment options by understanding the cause of their diseases.

Its goal is to follow the CLARITY mission to improve the clinical relevance of genetic analysis in hospitals.

Hospitals and doctors who are interested in registering patients for this project will find more information on the CeGaT website (www.cegat.de) starting Nov 07, 2012.

Genomatix has announced the pre-release of geneGrid, a web application designed to help medical researchers identifying pathogenic genomic variations in humans.

The GeneGrid technology allows one to annotate and filter thousands of genomic variations within seconds and is supported by a large body of medical and genomics data.

In addition, GeneGrid is integrated with many established Genomatix tools, such as the Genomatix Pathway System (GePS) and the Genomatix Genome Browser.

Prior to its official release, GeneGrid was successfully used in the CLARITY challenge.

"With GeneGrid we enable medical researchers to find novel and known variants that are medically relevant. We knew that geneGrid was based on a solid technology, but applying it in the CLARITY challenge showed us how powerful it really is in a clinical setting." says Jochen Supper, Head of Computational Biology at Genomatix.


Further Information

Join For Free

Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 4,000+ scientific posters on ePosters
  • More than 5,300+ scientific videos on LabTube
  • 35 community eNewsletters


Sign In



Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into TechnologyNetworks.com you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.


Scientific News
Big Genetics in BC: The American Society for Human Genetics 2016 Meeting
Themes at this year's meeting ranged from the verification, validation, and sharing of data, to the translation of laboratory findings into actionable clinical results.
Accelerating the Detection of Foodborne Bacterial Outbreaks
The speed of diagnosis of foodborne bacterial outbreaks could be improved by a new technique developed by researchers at the Georgia Institute of Technology.
Antibiotics Discovered While Sifting Through Human Microbiome
Researchers identify genes in a microbe’s genome that produce antibiotic compounds, then synthesize them without the need for bacterial culture.
A Genome-wide View of Human DNA Viruses
In this study, Duplex sequencing was used to accurately analyse the genome-wide rate of spontaneous mutation of human adenovirus C5 (HAdv5).
Peer Review is in Crisis, But Should be Fixed, Not Abolished
After the time to get the science done, peer review has become the slowest step in the process of sharing studies, and some scientists have had enough.
Rare Immunodeficiency Yields Unexpected Insights
Scientists uncover previously unknown gene mutation revealing the role of a key molecule involved in immune cell development.
Cancer Genetics: Key to Diagnosis, Therapy
When applied judiciously, cancer genetics directs caregivers to the right drug at the right time, while sparing patients of unnecessary or harmful treatments.
Illumina Contributes to ClinVar Database
The contribution includes variants of all classifications, from pathogenic to benign, identified during interpretation of whole genome sequences generated in the CLIA-certified, CAP-accredited Illumina Clinical Services Laboratory.
Agilent Presents Early Career Professor Award to Dr. Roeland Verhaak
JAX professor recognized for the development and implementation of workflows for the analysis of big-data from transcriptomics to next generation sequencing approaches.
Integrated Omics Analysis
Studying multi-omics promises to give a more holistic picture of the organism and its place in its ecosystem, however despite the complexities involved those within the field are optimistic.
Skyscraper Banner

SELECTBIO Market Reports
Go to LabTube
Go to eposters
 
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
4,000+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
5,300+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!