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International Genomic Challenge Results to be Announced at ASHG 2012

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San Francisco, California –Results of the CLARITY Challenge — an international competition led by Boston Children’s Hospital to begin to create standards for genomic analysis and interpretation and best practices for reporting results to clinicians and patients — will be announced in an 8:30 a.m. Pacific Time press briefing on Wednesday, November 7, at the American Society of Human Genetics 2012 meeting in San Francisco (hashtag #ASHG2012).

Three patients of the Manton Center for Orphan Disease Research at Boston Children’s Hospital, along with their families, agreed to have their DNA sequenced as part of the Challenge. All have rare conditions for which no genetic cause had been identified. Their DNA sequences, generated by contest co-sponsors Life Technologies Corporation and Complete Genomics, were sent to the CLARITY contestants along with the families’ clinical information. The contestants were challenged with interpretingthe sequence data and reporting their findings.

Forty teams applied to participate in CLARITY (Children’s Leadership Award for the Reliable Interpretation and appropriate Transmission of Your genomic information;hashtag #CLARITYDNA); 30 were selected and agreed to compete; 23 submitted complete entries by the September 30 deadline.

What:           Press briefing announcingCLARITY Challenge winner/results 

When:          Wednesday, November 7, 2012

       8:30 – 9:30 a.m. PT

Where:         ASHG 2012
                     Moscone Convention Center, San Francisco
                     Room 123

Who:    Alan Beggs, PhD, director of the Manton Center for Orphan Disease
                      Research at Boston Children’s Hospital; PI on the CLARITY Challenge

Catherine Brownstein, PhD, MPH, project manager of the Gene
       Partnership at Boston Children’s Hospital 

CLARITY Challenge finalists

CLARITY Challenge sponsors Complete Genomics and Life Technologies

Sarah Foye, mother of a patient whose DNA was sequenced as part of the CLARITY Challenge

Moderator: Leslie G. Biesecker, MD, chief and senior investigator,
                    NHGRI’s Genetic Disease Research Branch

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

Note: Dr. Brownstein will present a poster on the CLARITY Challenge (program number 1769W) that afternoon, from 2:15-3:15 p.m. in Exhibit Halls ABC.

For more information on CLARITY, visit: http://www.childrenshospital.org/CLARITY.

We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital 300 Longwood Avenue, Boston, MA 02115 617-355-6000 | 800-355-7944

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