Definition of the phenotype.
Definition of the phenotype is a key issue in designing any genetic study whose goal is to detect disease genes. This chapter describes strategies to increase the power to detect susceptibility loci for complex diseases. A narrowly defined disease phenotype can offer advantages over broad definitions. Studies of clinical disease can also benefit from judicious selection of endophenotypes and related quantitative traits for analysis. The effect of diagnostic and measurement error is also discussed; power is maximized when strategies to reduce error are incorporated into a study design.
Rice
J P
JP
Department of Psychiatry, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Saccone
N L
NL
Rasmussen
E
E
D000483:Alleles; D003937:Diagnosis, Differential; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D008957:Models, Genetic; D010641:Phenotype; D019655:Quantitative Trait, Heritable