Disease risk models

Allison Meisner, Nilanjan Chatterjee

Research output: Chapter in Book/Report/Conference proceedingChapter


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 languageEnglish (US)
Title of host publicationHandbook of Statistical Genomics
Number of pages27
ISBN (Electronic)9781119487845
ISBN (Print)9781119429142
StatePublished - Jul 29 2019


  • Annotation information
  • Disease risk models
  • Genetic risk factors
  • Polygenic risk scores
  • Single nucleotide polymorphisms
  • Traditional epidemiologic risk factors

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


Dive into the research topics of 'Disease risk models'. Together they form a unique fingerprint.

Cite this