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Mendelian disorders deserve more attention

Beckmann, J. S.
Published in Nature Reviews Genetics. 2006, vol. 7, no. 4, p. 277-282
Abstract The study of inherited monogenic diseases has contributed greatly to our mechanistic understanding of pathogenic mutations and gene regulation, and to the development of effective diagnostic tools. But interest has gradually shifted away from monogenic diseases, which collectively affect only a small fraction of the world's population, towards multifactorial, common diseases. The quest for the genetic variability associated with common traits should not be done at the expense of Mendelian disorders, because the latter could still contribute greatly to understanding the aetiology of complex traits.
Keywords AnimalsGenetic Diseases, Inborn/ diagnosis/ geneticsGenetics, Medical/ trendsHumansMiceModels, GeneticMultifactorial Inheritance/ genetics
PMID: 16534515
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Other version: http://www.nature.com/nrg/journal/v7/n4/pdf/nrg1826.pdf
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ANTONARAKIS, Stylianos, BECKMANN, J. S. Mendelian disorders deserve more attention. In: Nature Reviews Genetics, 2006, vol. 7, n° 4, p. 277-282. https://archive-ouverte.unige.ch/unige:8604

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Deposited on : 2010-07-12

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