Public Release: 

CeGaT and Genomatix finalists of Boston Children's Hospital's CLARITY challenge

Free exomes project for 6 families and new variant analysis software

This press release is available in German.

San Francisco, Tuebingen, Munich, November 7, 2012 - 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 [].

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 ( starting Nov 07, 2012.

Genomatix today 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. To learn more or analyze your data in GeneGrid, please contact us at:

"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.


About CeGaT:

CeGaT, Center for Genomics and Transcriptomics, is a service provider for DNA and RNA sequencing and also offers extensive bioinformatic analyses as well as medical interpretation of data. CeGaT is a worldwide pioneer in applying next-generation sequencing in human genetic diagnostic testing and has developed numerous diagnostic panels. These diagnostic panels enable parallel sequencing and interpretation of all genes associated with a certain disease. Hence the probability of confirming a diagnosis is significantly higher. The referring clinicians are provided with a thorough medical report in a very short period of time. CeGaT laboratory is accredited as a molecular human genetic diagnostics laboratory according to DIN EN ISO 15189:2007 and regularly participates in external quality control assessments from the EMQN or German society of human genetics. CeGaT was awarded "Best German Start-Up Company 2011".

For further information please contact CeGaT:
Phone: +49 7071 565 44 00

About Genomatix:

Genomatix Software GmbH is one of the world's leading suppliers of technologies to analyze and interpret genomic data. Headquartered in Munich (Germany), Genomatix has a global presence by representations in Ann Arbor, MI (USA), Paris (France), London (UK) and Tokyo (Japan). Founded in 1997, Genomatix pioneered the analysis and understanding of eukaryotic gene regulation. More than a decade of developments in computational and systems biology has put Genomatix into the position to have all needed data content and a complete analysis pipeline in place at the arrival of next generation sequencing technology. Genomatix has published more than 120 peer reviewed scientific papers with more than 5,000 citations. Over 35,000 researchers worldwide currently apply Genomatix award-winning tools and databases.

For further information please contact Genomatix:
Phone: +49 89 599 766 0

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