Abstract
The popularity of disease risk models has risen in recent years due in part to an increase in researchers' ability to measure many disease risk factors and a concomitant growing interest in 'precision medicine' approaches. These models seek to combine different sources of information to provide an estimate of an individual's disease risk. In this chapter we provide an overview of absolute disease risk models, including the steps involved in their development and evaluation. We discuss the use of genetic risk factors in these models, focusing in particular on polygenic risk scores. We review efforts to develop and evaluate breast cancer risk models, including those that incorporate genetic information. We close with a discussion of future directions and remaining challenges in this area.
Original language | English (US) |
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Title of host publication | Handbook of Statistical Genomics |
Publisher | wiley |
Pages | 815-841 |
Number of pages | 27 |
Volume | 1 |
ISBN (Electronic) | 9781119487845 |
ISBN (Print) | 9781119429142 |
DOIs | |
State | Published - Jul 29 2019 |
Keywords
- Annotation information
- Disease risk models
- Genetic risk factors
- Polygenic risk scores
- Single nucleotide polymorphisms
- Traditional epidemiologic risk factors
ASJC Scopus subject areas
- General Biochemistry, Genetics and Molecular Biology