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

Sun, 2011-07-31 22:09 -- John Hawks
TitleMendelian disorders and multifactorial traits: the big divide or one for all?
Publication TypeJournal Article
Year of Publication2010
AuthorsAntonarakis, SE, Chakravarti, A, Cohen, JC, Hardy, J
JournalNature reviews. Genetics
Volume11
Pagination380–384
Date Publishedmay
ISSN1471-0064
Keywords2010-09-18, disease, fitness effects, gwas, health, mutation
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.

URLhttp://dx.doi.org/10.1038/nrg2793
DOI10.1038/nrg2793
Citation KeyAntonarakis:2010

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