Published in

Nature Research, Nature Reviews Genetics, 4(7), p. 277-282, 2006

DOI: 10.1038/nrg1826

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Mendelian disorders deserve more attention

Journal article published in 2006 by Stylianos E. Antonarakis, Jacques S. Beckmann ORCID
This paper was not found in any repository; the policy of its publisher is unknown or unclear.
This paper was not found in any repository; the policy of its publisher is unknown or unclear.

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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.