Journal of Molecular Medicine

, Volume 82, Issue 4, pp 214-222

First online:

Human genome research in China

  • Boqin QiangAffiliated withState Key Laboratory of Medical Molecular Biology, Chinese Academy of Medical Sciences and Peking Union Medical College Email author 

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Significant progress in human genome research has been made in China since 1994. This review aims to give a brief and incomplete introduction to the major research institutions and their achievements in human genome sequencing and functional genomics in medicine, with emphasis on the “1% Sequencing Project”, the generation of single nucleotide polymorphism and haplotype maps of the human genome, disease gene identification, and the molecular characterization of leukemia and other diseases. Chinese efforts towards the sequencing of pathogenic microbial genomes and of the rice (Oryza sativa ssp. Indica) genome are also described.


Human genome Microbial genome Rice genome Human disease related genes