The contest also identified a probable cause for heart rhythm disturbances in the second family, whose son Liam Burns died 12 days after birth: mutation of a gene called TRPM4, cited by seven teams as likely to be causative. In addition to rhythm disturbances, Liam and several other family members had structural heart defects that remain unexplained by CLARITY; Boston Children's researchers at The Manton Center are investigating whether the TRPM4 alterations are involved.
The genetic cause of the third child's disorder, another muscle-weakening disease known as nemaline myopathy, remains unclear. In all, seven genetic variants were cited by two or more contestants; four were judged worthy of further investigation, including variants of two genes never before associated with nemaline myopathy. The Manton Center at Boston Children's plans to explore these genes further to see if the variants are causative.
Guidance for best practices
There was considerable variability among the contestants' techniques and findings, to be described in the forthcoming paper. However, the teams that were finalists had methods and results that were sound and substantially similar, says Margulies.
"When these best practices are disseminated, skilled practitioners around the world will be able to benchmark themselves against them," he says. "Through CLARITY, we've learned that the best teams in the world, when given raw sequence data, agree fairly closely on results, the meaning of the results and how to deliver them. The best teams were able to elucidate a precise cause for previously unexplained genetic disorders."
"The contestants have demonstrated that genomics, bioinformatics and biotechnology can now have routine relevance in clinical care," says Isaac
|SOURCE Boston Children's Hospital|
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