The Children’s Hospital of Philadelphia has partnered with Beijing Genomics Institute, or BGI, the largest genomics institute in the world, to do large-scale human sequencing and bioinformatics analysis at the Joint Genome Center at the hospital.
BGI@CHOP will focus on genes that underpin rare and common pediatric diseases using next-generation sequencing. CHOP has expertise in clinical phenotyping and a substantial biobank.
“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,” said Dr. Hakon Hakonarson, director of the Center for Applied Genomics at Children’s Hospital

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Hakonarson said the partnership will help the hospital better understand the origin of genetic mutations, what they mean and when they occur, through studying a broader set of samples and learning from them.
Hakonarson said the partnership gives the hospital the capacity to reach out and sequence every child that comes into CHOP and since the DNA sequence of genomes does not change, they will be able to see what diseases they are at risk for, what they may develop when they grow up and become adults in addition to treating more childhood conditions more efficiently.
Dr. Hakon Hakonarson, the director of the Center for Applied Genomics at the Children’s Hospital of Philadelphia

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