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
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
Boston Children's Hospital
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.