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After the genome—the phenome?

  • Published:
Journal of Inherited Metabolic Disease

Abstract

Summary: 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

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  1. Departments of Biology, Human Genetics, and Pediatrics, McGill University, McGill University Health Center, A-721, Montreal Children's Hospital, 2300 Tupper Street, Montreal, Quebec, Canada, H3H 1P3 E-mail

    C. R. Scriver

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Scriver, C.R. After the genome—the phenome?. J Inherit Metab Dis 27, 305–317 (2004). https://doi.org/10.1023/B:BOLI.0000031100.26546.6e

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  • DOI: https://doi.org/10.1023/B:BOLI.0000031100.26546.6e

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