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Shanghai hospitals initiates whole genome sequencing project for clinical diagnosis of childhood rare diseases

The group of Yongguo YU at Xinhua Hospital, affiliated to Shanghai Jiaotong University, and colleagues at Xiangya Hospital of Central South University have started a joint project on whole genome sequencing in an attempt to improve the overall level of pediatricians to treat children with rare diseases. There is already a national China Genomic Database for Childhood Genetic Disease Detection, and it is expected that and whole genome sequencing can detect complex genomic variations that could not be detected by curreng single gene or exon analysis via gene chips and other current gene sequencing methods. At present, about 6,000 to 7,000 rare diseases have been identified globally, and about 80% of rare diseases are caused by genetic defects.

Source: China Bio news release, March 12, 2013

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