Statistical Methods for Disease Risk Prediction with Genotype Data

Methods Mol Biol. 2023:2629:331-347. doi: 10.1007/978-1-0716-2986-4_15.

Abstract

Single-nucleotide polymorphism (SNP) is the basic unit to understand the heritability of complex traits. One attractive application of the susceptible SNPs is to construct prediction models for assessing disease risk. Here, we introduce prediction methods for human traits using SNPs data, including the polygenic risk score (PRS), linear mixed models (LMMs), penalized regressions, and methods for controlling population stratification.

Keywords: Complex disease prediction; Linear mixed model; Penalized regression; Polygenic risk score; Population stratification; Single-nucleotide polymorphism.

MeSH terms

  • Genetic Predisposition to Disease
  • Genome-Wide Association Study* / methods
  • Genotype
  • Humans
  • Multifactorial Inheritance*
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Risk Factors