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Contest Underway to Clarify Best Practices for Genomic Data Interpretation

NEW YORK (GenomeWeb News) – An array of contestants are participating in a contest to decode the DNA sequences of three children with rare diseases in order to establish best practices for genomic data interpretation, the contest's organizers announced this week.

In all, 30 contestants, ranging from small biotech startups to the National Institutes of Health, are part of the CLARITY Challenge (Children's Leadership Award for the Reliable Interpretation and Transmission of Your genomic information), which aims to address technical and bioinformatics questions in the analysis of DNA sequences, standardize the analysis of genetic variants, and generate a "comprehensive, actionable report" to guide clinicians, genetic counselors, and patients.

"The last major barrier to widespread clinical use of DNA sequencing is the creation of accurate, understandable interpretations of sequence findings for doctors and patients," David Margulies, executive director of the Gene Partnership at Boston Children's Hospital, and who is also affiliated with the Center for Biomedical Informatics, Harvard Medical School, said in a statement. "The goal of this contest is to define norms, standards, and models for reporting findings from exomes and genomes."

Margulies, Isaac Kohane, director of Boston Children's Informatics Program, and Alan Beggs, director of the Manton Center for Orphan Disease Research at the hospital, are CLARITY's organizers.

Of the three children whose sequences will be analyzed, two have a neuromuscular disorder and the third has a cardiovascular illness. It is believed their conditions have an underlying genetic cause, but all known genetic tests have turned up negative.

"Traditional genetic tests examine our genes one by one, requiring doctors to have a good idea ahead of time which of our roughly 20,000 genes is the likely cause," Beggs said. "The beauty of whole-genome sequencing is that it provides results for virtually all of our genes at once. The challenge for our contestants is to pick out that one disease-causing mutation from the vast numbers of genetic differences that make each of us unique."

The contestants have been supplied raw DNA sequence data, both whole-genome and whole-exome sequences, and de-identified clinical data for the three children and their immediate relatives. They have until Sept. 30 to submit their findings and reports.

Contest sponsors Life Technologies and Complete Genomics generated the genome sequences for the challenge, the winner of which will receive $25,000.

Among the contestants are BGI; Brigham and Women's Hospital, Division of Genetics; Institute for Systems Biology; Scripps Genomic Medicine; Sanofi; Strand Life Sciences; and the Yale School of Public Health, Division of Biostatistics, among others.

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