International Journal of Epidemiology 2003;32:29-31
© International Epidemiological Association 2003
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The genome sequence is a jazz score
Institut Municipal d’Investigació Mèdica (IMIM-IMAS), Universitat Autònoma de Barcelona, Spain and University of North Carolina at Chapel Hill, USA.
Correspondence: Prof. Miquel Porta, Institut Municipal d’Investigació Mèdica, Universitat Autònoma de Barcelona, Carrer del Dr. Aiguader 80, E-08003 Barcelona, Spain. E-mail: mporta@imim.es
Keywords Gene expression, gene–environment interactions, penetrance, low-penetrant genes, highly penetrant mutations, phenotype, oncogenes, mutation, environment, metaphor, music, polymorphism genetics, DNA/genetics, screening, number needed to screen (NNS), genetic testing, jazz, musicians
| The first 150 words of the full text of this article appear below. |
La Nature est un temple où des vivants piliers
Laissent parfois sortir de confuses paroles;
L’homme y passe à travers des symboles
Qui l’observent d’un regard familier.
Correspondances [fragment]
In: Les fleurs du mal (1957) Charles Baudelaire
It is not possible to do the work of science without using a language that is filled with metaphors.
In: The Triple Helix (2000) Richard C Lewontin
The main purpose of this paper is to suggest a metaphor—among many possibly valid and evocative—for the role of genes in complex chronic diseases. It is based on the inherent roleof host-environmental interactions on the expression of low-penetrant genes. The relationship between an individual’s genetic makeup and its phenotypic expression can be likened to the relationship between a jazz score and the performed music.
I think one of the most inspiring papers published in the last couple of years was the one published by Paolo
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