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Nat Rev Genet. 2010 May;11(5):380-4. doi: 10.1038/nrg2793.

Mendelian disorders and multifactorial traits: the big divide or one for all?

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  • 1Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland. Stylianos.Antonarakis@unige.ch


For the past century, Mendelian and multifactorial traits have existed at opposite ends of the disease spectrum in humans. Furthermore, the recent emphasis on genome-wide association studies for uncovering variants that underlie common diseases has risked deepening the divide - or has it? Four experienced human geneticists express their views on the changing landscape of human disease studies and the impact of new technologies and study designs on the age-old aim of connecting a genomic variant with its phenotypic consequences.

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