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Thirty teams compete to interpret three families' genomes

BOSTON, Aug. 15, 2012 /PRNewswire-USNewswire/ -- DNA sequencing is rapidly getting faster and cheaper, but it's still unclear how physicians and patients will be able to use this information. In a contest led by Boston Children's Hospital, 30 teams from around the world are vying to interpret the DNA sequences of three children with rare conditions whose cause remains a mystery—with the goal of establishing "best practices" for interpreting genomic data.

Participants in the competition, known as the CLARITY challenge, range from small biotech startups to the National Institutes of Health (see list below), representing the United States, Canada, China, India, Israel, Italy, Germany, the Netherlands, Singapore, Slovenia, Spain, Switzerland and Sweden.

Results of the challenge will be announced in November at the American Society of Human Genetics annual meeting in San Francisco (Nov. 6-10) by the contest's organizers—David Margulies, MD, executive director of The Gene Partnership at Boston Children's, Isaac Kohane, MD, PhD, director of the hospital's Informatics Program, and Alan Beggs, PhD, director of the Manton Center for Orphan Disease Research at the hospital.

The goals of CLARITY (Children's Leadership Award for the Reliable Interpretation and Transmission of Your genomic information) are to address technical and bioinformatics questions in analyzing DNA sequence results, bring standardization to the analysis of genetic variants and generate a comprehensive, actionable report that can guide decision-making by doctors, genetic counselors and patients. Contestants have a deadline of September 30 to submit their findings and reports.

"The last major barrier to widespread clinical use of DNA sequencing is the creation of accurate, understandable interpretations of sequence findings for doctors and patients," says Margulies, also affiliated with the Center for Biomedical Informatics, Harvard Medical School. "The goal of this contest is to define norms, standards and models for reporting findings from exomes and genomes. We are excited about the number and quality of participants, and we look forward to seeing their entries."

All contestants have been given raw DNA sequence data (both whole-genome and whole-exome sequences) and de-identified clinical data from three children and their immediate relatives identified by The Manton Center for Orphan Disease Research at Boston Children's.

Of the three children, two have a neuromuscular disorder and the third a cardiovascular disorder. While all three are believed to have a genetic cause for their disorder, they have come up negative on all known genetic tests.

"Traditional genetic tests examine our genes one by one, requiring doctors to have a good idea ahead of time which of our roughly 20,000 genes is the likely cause," says Beggs, also a professor of Pediatrics at HMS. "The beauty of whole-genome sequencing is that it provides results for virtually all of our genes at once. The challenge for our contestants is to pick out that one disease-causing mutation from the vast numbers of genetic differences that make each of us unique."

Contest sponsors Life Technologies Corporation and Complete Genomics generated the genome sequences being used in the Challenge. Boston Children's will award a prize of $25,000 to the winning research team, which will be selected by a panel of judges according to pre-specified criteria.

"We wanted researchers at small institutions and startups, anywhere in the world, to be able to compete with the 'big boys' of genomics and in so doing find better solutions," says Kohane, who co-directs the Center for Biomedical Informatics at HMS. "This contest gives everyone a level playing field on which to innovate."

Challenge contestants:

1.      BGI (Shenzhen, China)

2.      Brigham and Women's Hospital, Division of Genetics (Boston, Massachusetts)

3.      British Columbia Cancer Agency (Vancouver, Canada)

4.      Children's Hospital of Eastern Ontario (Ottawa, Canada)

5.      Clinical Institute of Medical Genetics (Ljubljana, Slovenia)

6.      Genedata AG (Basel, Switzerland)

7.      Genomatix (Munich, Germany), CeGaT (Tübingen, Germany), Institute of Pathology, University Hospital of Bonn (Bonn, Germany)

8.      Genome Institute of Singapore  Agency for Science, Technology and Research (A*STAR) (Biopolis, Singapore)

9.      HudsonAlpha Institute for Biotechnology (Huntsville, Alabama)

10.  Institute for Systems Biology (Seattle, Washington)

11.  IRCCS Casa Sollievo della Sofferenza (San Giovanni Rotondo, Foggia, Italy)

12.  National Institutes of Health (Bethesda, Maryland)

13.  NextBio (Santa Clara, California)

14.  Omicia, Inc. (Emeryville, California)

15.  Pearlgen (Chapel Hill, North Carolina)

16.  Radboud University Nijmegen Medical Center (Nijmegen, Netherlands)

17.  Sanofi  (Cambridge, Massachusetts)

18.  Science For Life Laboratory (SciLifeLab), Karolinska Institute (Solna, Sweden)

19.  Scripps Genomic Medicine, Scripps Translational Science Institute (San Diego, California)

20.  Seven Bridges Genomics (Cambridge, Massachusetts)

21.  SimulConsult / Geisinger (Chestnut Hill, Massachusetts / Danville, Pennsylvania)

22.  SNPedia (Potomac, Maryland)

23.  Strand Life Sciences (Bangalore, India)

24.  Tel Aviv University (Israel)

25.  The Medical College of Wisconsin (Milwaukee, Wisconsin)

26.  The Research Institute at Nationwide Children's Hospital (Columbus, Ohio)

27.  The University of Texas Health Science Center at Houston, The Brown Foundation Institute of Molecular Medicine (Houston, Texas)

28.  Universidad de Cantabria (Santander, Spain)

29.  University of Iowa (Iowa City, Iowa)

30.  Yale School of Public Health, Division of Biostatistics (New Haven, Connecticut)

Full information about the Challenge is available online at For further background on CLARITY and genome sequencing, see these recent posts on our science and innovation blog, Vector:

Boston Children's Hospital is home to the world's largest research enterprise based at a pediatric medical center, where its discoveries have benefited both children and adults since 1869. More than 1,100 scientists, including nine members of the National Academy of Sciences, 11 members of the Institute of Medicine and nine members of the Howard Hughes Medical Institute comprise Boston Children's research community. Founded as a 20-bed hospital for children, Boston Children's today is a 395 bed comprehensive center for pediatric and adolescent health care grounded in the values of excellence in patient care and sensitivity to the complex needs and diversity of children and families. Boston Children's also is the primary pediatric teaching affiliate of Harvard Medical School. For more information about research and clinical innovation at Boston Children's, visit:

Keri Stedman
Boston Children's Hospital

SOURCE Boston Children's Hospital
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