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Scientific article
English

Mendelian disorders deserve more attention

Published inNature reviews. Genetics, vol. 7, no. 4, p. 277-282
Publication date2006
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
  • Animals
  • Genetic Diseases, Inborn/ diagnosis/ genetics
  • Genetics, Medical/ trends
  • Humans
  • Mice
  • Models, Genetic
  • Multifactorial Inheritance/ genetics
Citation (ISO format)
ANTONARAKIS, Stylianos, BECKMANN, J. S. Mendelian disorders deserve more attention. In: Nature reviews. Genetics, 2006, vol. 7, n° 4, p. 277–282. doi: 10.1038/nrg1826
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ISSN of the journal1471-0056
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