Review Article |
Featured
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Review Article |
Developing and evaluating polygenic risk prediction models for stratified disease prevention
Common diseases have complex aetiology involving the interplay of genetic susceptibility and environmental risk factors. Here, the authors describe methods for building and evaluating models for the prediction of disease risk based on information from genetic testing and environmental factors, and use case studies to illustrate the potential of such models in the prevention of diseases.
- Nilanjan Chatterjee
- , Jianxin Shi
- & Montserrat García-Closas
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Analysis |
The contribution of genetic variants to disease depends on the ruler
There are various measures to quantify the contribution of genetic variants to disease risk, but differing terminology and assumptions obfuscate their use and interpretation. In this Analysis, the authors consider and contrast six commonly used measures that assess disease risk of individual variants, and provide numerical examples in breast cancer, Crohn's disease, rheumatoid arthritis and schizophrenia.
- John S. Witte
- , Peter M. Visscher
- & Naomi R. Wray
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