Disease risk models

Allison Meisner, Nilanjan Chatterjee

Research output: Chapter in Book/Report/Conference proceedingChapter

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 languageEnglish (US)
Title of host publicationHandbook of Statistical Genomics
Publisherwiley
Pages815-841
Number of pages27
Volume1
ISBN (Electronic)9781119487845
ISBN (Print)9781119429142
DOIs
StatePublished - 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

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