Genotype to phenotype: lessons from model organisms for human genetics
Cet article passe en revue les travaux récents sur l'intérêt des modèles animaux pour la compréhension des mécanismes génétiques impliqués dans les maladies humaines
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.
Nature Reviews Genetics , résumé, 2012