人类变异组计划及其进展

doi:10.3724/SP.J.1005.2010.01105

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HEREDITAS ›› 2010, Vol. 32 ›› Issue (11): 1105-1113.doi: 10.3724/SP.J.1005.2010.01105

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The Human Variome Project and its progress

GAO Shan, ZHANG Ning, ZHANG Lei, DUAN Guang-You, ZHANG Tao

College of Life Science, Nankai University, Tianjin 300071, China

Received:2010-03-02 Revised:2010-04-28 Online:2010-11-20 Published:2010-11-25
Contact: Tao Zhang E-mail:zhangtao@nankai.edu.cn

Abstract

Abstract: The main goal of post genomics is to explain how the gemone, the map of which has been constructed in the Human Genome Project, affacts activities of life.This leads to generate multiple “omics”: structural genomics, functional genomics, proteomics, metabonomics, et al. In Jun. 2006, Melbourne, Australia, Human Genome Variation Society (HGVS) initiated the Human Variome Project (HVP) to collect all the sequence variation and polymorphism data worldwidely. HVP is to search and determine those mutations related with human diseases by association study between genetype and phenotype on the scale of genome level and other methods. Those results will be translated into clinical application. Considering the potential effects of this project on human health, this paper introduced its origin and main content in detail and discussed its meaning and prospect.

Key words: variation, polymorphism, phenotype, variome, mutation

GAO Shan, ZHANG Ning, ZHANG Lei, DUAN An-Wei, ZHANG Chao. The Human Variome Project and its progress[J]. HEREDITAS, 2010, 32(11): 1105-1113.

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