CBCB Team Takes Second Place in CLARITY Challenge

Friday, November 9, 2012

A University of Iowa team of more than 30 researchers from five different colleges has been named a finalist and awarded $5,000 in a competition that challenged international research teams to provide the best interpretation and communication of DNA sequencing results for three children with rare, undiagnosed genetic diseases.

The CLARITY challenge, which was organized by Boston Children’s Hospital and launched in January 2012, pinpointed the genetic cause of one child's muscular condition and deafness, and identified a probable cause for heart rhythm disturbances in a second family. The first-of-its-kind contest also produced approaches that contest organizers hope will form the basis of much-needed “best practices” in genome analysis, interpretation, and reporting.

The team includes Tom Casavant, professor of electrical and computer engineering and biomedical engineering and director of the Center for Bioinformatics and Computational Biology (CBCB); Terry Braun and Todd Scheetz, associate professors of biomedical engineering and researchers at CBCB; Adam DeLuca, PhD candidate in biomedical engineering; Scott Whitmore, PhD candidate in genetics; and Ann Black and David Thole, CBCB staff members -- was lauded for taking a unique approach in returning unanticipated genetic results and received $5,000.

Brigham and Women’s Hospital, Division of Genetics in Boston, Mass., was named the winner of the contest and awarded $15,000. The UI team and a team based in Germany were each named finalists and awarded $5,000. The results were announced Nov. 7 at the American Society of Human Genetics (ASHG) annual meeting in San Francisco.