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基因组之后——表型组?

After the genome--the phenome?

作者信息

Scriver C R

机构信息

Department of Biology, McGill University, McGill University Health Center, A-721, Montreal Children's Hospital, 2300 Tupper Street, Montreal, Quebec, Canada H3H 1P3.

出版信息

J Inherit Metab Dis. 2004;27(3):305-17. doi: 10.1023/B:BOLI.0000031100.26546.6e.

Abstract

What next? The Human Genome Project signifies complexity rather than simplification in the relationship between genotype and phenotype. Genotypes are embedded in genomes. Individuality in phenotypes is embedded in components of the phenome (transcriptome, metabolome, proteome, etc.). The phenome, its layers, and its nodes, links and networks, require elucidation; there is a need for a Human Phenome Project (Freimer and Sabatti 2003). Biology has largely been a reductive science in the recent past; integrative biology lies ahead. Clinician-scientists (including human biochemical geneticists) will be recognized as key participants in the 'medical' Phenome Project as it reveals components of individuality, and their contributions, in simple or combinatorial fashion, to Mendelian and complex traits; better ways to treat 'genetic disease' will be by-products of the project. Although the Word is common to all, most men live as if each had a private wisdom of his own.Herakleitos

摘要

接下来会怎样?人类基因组计划表明,基因型与表型之间的关系是复杂而非简单的。基因型嵌入在基因组中。表型的个体性嵌入在表型组(转录组、代谢组、蛋白质组等)的组成部分中。表型组及其层次、节点、链接和网络需要阐明;有必要开展人类表型组计划(弗雷默和萨巴蒂,2003年)。在最近一段时间里,生物学在很大程度上是一门还原论科学;整合生物学就在前方。临床科学家(包括人类生化遗传学家)将被视为“医学”表型组计划的关键参与者,因为该计划揭示了个体性的组成部分,以及它们以简单或组合方式对孟德尔性状和复杂性状的贡献;更好地治疗“遗传疾病”将是该计划的副产品。尽管“道”对所有人来说都是共同的,但大多数人的生活方式就好像每个人都有自己的私人智慧一样。赫拉克利特

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