Statistical Genetic Terminology

Abstract

Common terms used in statistical genetics with multiple meanings are explained and the terminology used in subsequent chapters is defined. Statistical human genetics has existed as a discipline for over a century, and during that time the meanings of many of the terms used have evolved, largely driven by molecular discoveries, to the point that molecular geneticists, statistical geneticists, and statisticians often have difficulty understanding each other. It is therefore imperative, now that so much of molecular genetics is becoming an in silico and statistical science, that we have a well-defined, common terminology.

Keywords: Additive; Allele; Allelic association; Codominant; Complex trait; Diallelic; Dominant; Epistasis; Gametic phase disequilibrium; Gene; Genotype; Haplotype; Identity by descent; Identity in state; Interaction; Kinship coefficient; Linkage disequilibrium; Locus; Logit; Mixed model; Monoallelic; Monogenic; Monomorphic; Multiallelic; Multifactorial; Multilocus genotype; Mutation; Penetrance; Phase; Phenoset; Phenotype; Pleiotropy; Polyallelic; Polygenic; Polymorphism; Probit; Quantitative trait locus; Recessive; Scale of measurement; Site; Transformation; Transition probability; Transmission probability.