The BGI@CHOP partnership aims to discover the molecular basis of rare and common diseases affecting children.

The Children’s Hospital of Philadelphia and BGI formed a partnership to identify genes underpinning pediatric diseases. BGI@CHOP has been established to conduct large-scale human genome sequencing and analysis at the newly established Joint Genome Center at Children’s Hospital. The center became fully operational last month.

The BGI@CHOP collaboration will combine BGI’s capabilities and expertise in whole-genome sequencing and analysis with Children’s Hospital’s extensive biobank and expertise in clinical phenotyping. “The Children’s Hospital of Philadelphia has built the largest pediatric biobank in the world, and because many of these samples have been linked to clinical data using an electronic medical record, we can now follow disease processes into adulthood,” points out Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at Children’s Hospital.

BGI@CHOP will target both rare and common pediatric diseases. “The ultimate goal is to change the way we diagnose and treat diseases that affect children and families, and our work with BGI is an important first step toward that end,” says Philip Johnson, M.D., CSO at The Children’s Hospital of Philadelphia.

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