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Polygenic risk scores: from research tools to clinical instruments.

Genome medicine - 18 May 2020

Lewis Cathryn M, Vassos Evangelos

Abstract excerpt

Genome-wide association studies have shown unequivocally that common complex disorders have a polygenic genetic architecture and have enabled researchers to identify genetic variants associated with diseases. These variants can be combined into a polygenic risk score that captures part of an individual's susceptibility to diseases. Polygenic risk scores have been widely applied in research studies, confirming the...

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Genetic Predisposition to Disease
Genetic Variation
Multifactorial Inheritance
Research Design
Risk Factors

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PMID: 32423490
DOI: 10.1186/s13073-020-00742-5
PMCID: PMC7236300

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