Journal
NATURE REVIEWS GENETICS
Volume 11, Issue 5, Pages 380-384Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nrg2793
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Funding
- Medical Research Council [MR/K01417X/1, G0701075] Funding Source: Medline
- MRC [G0701075] Funding Source: UKRI
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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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