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Thirty teams compete to interpret three families' genomes
Date:8/15/2012

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
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SOURCE Boston Children's Hospital
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