|Title||Mendelian disorders and multifactorial traits: the big divide or one for all?|
|Publication Type||Journal Article|
|Year of Publication||2010|
|Authors||Antonarakis, SE, Chakravarti, A, Cohen, JC, Hardy, J|
|Journal||Nature reviews. Genetics|
|Keywords||2010-09-18, disease, fitness effects, gwas, health, mutation|
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.
Mendelian disorders and multifactorial traits: the big divide or one for all?
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