Genotype to phenotype: lessons from model organisms for human genetics

Nat Rev Genet. 2013 Mar;14(3):168-78. doi: 10.1038/nrg3404. Epub 2013 Jan 29.


To what extent can variation in phenotypic traits such as disease risk be accurately predicted in individuals? In this Review, I highlight recent studies in model organisms that are relevant both to the challenge of accurately predicting phenotypic variation from individual genome sequences ('whole-genome reverse genetics') and for understanding why, in many cases, this may be impossible. These studies argue that only by combining genetic knowledge with in vivo measurements of biological states will it be possible to make accurate genetic predictions for individual humans.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Chromosome Mapping
  • Epistasis, Genetic
  • Gene-Environment Interaction
  • Genetic Variation
  • Genome, Human*
  • Genotype*
  • Humans
  • Phenotype*