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Boston Children's Hospital announces international genomics competition winner
Date:11/7/2012

Institute at Nationwide Children's Hospital (Columbus, Ohio); Science for Life Laboratory (SciLifeLab) of the Karolinska Institute (Solna, Sweden); Scripps Genomic Medicine, Scripps Translational Science Institute (San Diego, Calif.); and a team comprised of SimulConsult (Chestnut Hill, Mass.) and Geisinger Health System (Danville, Pa.).

CLARITY's design

CLARITY (Children's Leadership Award for the Reliable Interpretation and appropriate Transmission of Your genomic information) was launched in January 2012. It challenged contestants to interpret DNA sequences from three children with rare conditions for which no genetic cause had been identified, selected by the Manton Center for Orphan Disease Research at Boston Children's Hospital. The children's identities were kept anonymous.

Of 40 research groups that submitted applications, 30 were selected to compete. Each received medical data for the three children and their parents, along with whole-genome and whole-exome sequences generated by contest sponsors Life Technologies Corporation and Complete Genomics.

Twenty-three teams went on to submit complete entries, reviewed by an independent panel of judges using predefined criteria. While many entries got high marks, the Brigham and Women's team was judged to have the best combination of cutting-edge bioinformatic analysis, clarity and utility of its clinical reports for the three families, and appropriate identification of the families' likely genetic defects. The two finalist teams were judged unique and outstanding in one or more areas; the Genomatix team was the only group to correctly flag every likely genetic
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SOURCE Boston Children's Hospital
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