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Curr Protoc Hum Genet. 2019 Dec;104(1):e95. doi: 10.1002/cphg.95.

Genetic Risk Scores.

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Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, Ohio.


Genome-wide variation data with millions of genetic markers have become commonplace. However, the potential for interpretation and application of these data for clinical assessment of outcomes of interest, and prediction of disease risk, is currently not fully realized. Many common complex diseases now have numerous, well-established risk loci and likely harbor many genetic determinants with effects too small to be detected at genome-wide levels of statistical significance. A simple and intuitive approach for converting genetic data to a predictive measure of disease susceptibility is to aggregate the effects of these loci into a single measure, the genetic risk score. Here, we describe some common methods and software packages for calculating genetic risk scores and polygenic risk scores, with focus on studies of common complex diseases. We review the basic information needed, as well as important considerations for constructing genetic risk scores, including specific requirements for phenotypic and genetic data, and limitations in their application.


AUC; complex diseases; complex traits; disease prediction; genetic risk score; polygenic risk score

[Available on 2020-12-01]

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