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Thirty teams compete to interpret three families' genomes.

International contestants vie to bring "CLARITY" to DNA sequencing information

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 ( C hildren's L eadership A ward for the R eliable I nterpretation and T ransmission of Y our 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 Harvard Medical School (HMS) is one of the graduate schools of Harvard University. It is a prestigious American medical school located in the Longwood Medical Area of the Mission Hill neighborhood of Boston, Massachusetts. . "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 See net neutrality.  on which to innovate."

Challenge contestants:

1. BGI (Shenzhen, China)

2. Brigham and Women's Hospital Brigham and Women's Hospital (BWH) is a hospital in the Longwood Area of the Boston, Massachusetts neighborhood of Mission Hill. With Massachusetts General Hospital, it is one of the two founding members of Partners HealthCare. , Division of Genetics (Boston, Massachusetts)

3. British Columbia Cancer Agency (Vancouver, Canada)

4. Children's Hospital of Eastern Ontario The Children's Hospital of Eastern Ontario (CHEO) is a major university teaching children's hospital located at 401 Smyth Road, Ottawa, Canada (Tel (613) 737-7600). It is affiliated with The Ottawa Hospital and the University of Ottawa.  (Ottawa, Canada)

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

6. Genedata AG (Basel, Switzerland)

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

8. Genome Institute of Singapore Agency for Science, Technology and Research The Agency for Science, Technology and Research (Abbreviation: A*STAR; Chinese: 新加坡科学技术研究局) is a statutory board in Singapore.  (A*STAR)(Biopolis, Singapore)

9. HudsonAlpha Institute for Biotechnology (Huntsville, Alabama)

10. Institute for Systems Biology The Institute for Systems Biology (ISB) is a non-profit research institution, located in Seattle, Washington, United States. Leroy Hood co-founded the Institute with Alan Aderem and Ruedi Aebersold in 2000.  (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 Chapel Hill is a town in North Carolina and the home of the University of North Carolina at Chapel Hill (UNC-CH), the oldest state-supported university in the United States. As of the 2000 census, it had a population of 48,715. As of 2004 its estimated population was 52,440. )

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 An Institute of Molecular Medicine, or IMM for short, may refer to a scientific research institution in molecular medicine. Several IMMs exist around the world:

Portugal
 (Houston, Texas)

28. Universidad de Cantabria (Santander, Spain)

29. University of Iowa (Iowa City, Iowa)

30. Yale School of Public Health The Yale School of Public Health was founded in 1915 by Charles-Edward Amory Winslow.

The School of Public Health offers programs in biostatistics, chronic disease epidemiology, environmental health sciences, epidemiology of microbial diseases, global health, health
, Division of Biostatistics (New Haven, Connecticut)

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

* Seeking CLARITY: Genomics sleuths set out for the prize

* Whole-genome sequencing in medicine: New knowledge, new responsibilities

Boston Children's Hospital is home to the world's largest research enterprise based at a pediatric pediatric /pe·di·at·ric/ (pe?de-at´rik) pertaining to the health of children.

pe·di·at·ric
adj.
Of or relating to pediatrics.
 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 This list includes approximately 2,000 current (not past) members and 350 foreign associates of the United States National Academy of Sciences, each of whom is affiliated with one of 31 disciplinary sections. Each person's name, primary institution, and election year are given. , 11 members of the Institute of Medicine and nine members of the Howard Hughes Medical Institute Howard Hughes Medical Institute, (HHMI), nonprofit medical research organization founded in 1953 by Howard Hughes and largly funded from proceeds of the 1984–85 sale of Hughes Aircraft. Headquartered in Chevy Chase, Md.  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: http://vectorblog.org.

CONTACT: Keri Stedman Boston Children's Hospital 617-919-3110 keri.stedman@childrens.harvard.edu

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