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Published on: August 15, 2019
Mendelian disorders and multifactorial traits: the big divide or one for all?
Stylianos E Antonarakis1, Aravinda Chakravarti, Jonathan C Cohen
1Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland. Stylianos.Antonarakis@unige.ch
Abstract:
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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