Goal is to discover genetic variants associated with these diseases.

BGI and The Children’s Hospital of Philadelphia (CHOP) have jointly initiated the 1,000 Rare Diseases Project. The aim is to accelerate the discovery of genetic variants underlying rare diseases. The project primarily focuses on sequencing 1,000 rare diseases including ones that affect both children and adults. Under the collaboration agreement, BGI and CHOP will use next-generation sequencing (NGS) technologies to analyze well-characterized DNA samples from patients and families with single-gene inheritance patterns.

The project will employ integrative genomic approaches and innovative analysis pipelines, laying a solid genetic foundation for future clinical diagnosis and treatment. “Experimental results show that the genome-wide sequencing approaches we are currently pursuing are more cost effective and efficient than previous linkage-mapping and candidate gene methods,” explains Xun Xu, deputy director of BGI. “This is partly due to the fact that genome-wide sequencing approaches make it possible to pinpoint the cause of many rare diseases using much smaller numbers of samples.”

“The BGI/CHOP collaboration is an ideal partnership,” says Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at CHOP and co-director of BGI@CHOP Joint Genome Center. “It brings together the unique strengths of two world-class institutions, combining BGI’s robust capabilities and expertise in NGS and bioinformatics analysis with CHOP’s extensive biobanking and clinical and translational expertise.”

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