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

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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Figure 1: Feasibility of identifying genetic variants by risk-allele frequency and strength of genetic effect (odds ratio).

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John Hardy consults on Alzheimer's disease and Parkinson's disease for Eisai and MerckSerono.

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DATABASES

Human Gene Mutation Database

OMIM

Hirschsprung disease

Marfan syndrome

progressive supranuclear palsy

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Stylianos E. Antonarakis's homepage

Aravinda Chakravarti's homepage

Jonathan C. Cohen's homepage

John Hardy's homepage

AnEUploidy

Frontiers in Genetics

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Antonarakis, S., Chakravarti, A., Cohen, J. et al. Mendelian disorders and multifactorial traits: the big divide or one for all?. Nat Rev Genet 11, 380–384 (2010). https://doi.org/10.1038/nrg2793

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