Statistical Genetic Terminology
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.
Key wordsGene Allele Locus Site Genotype Phenotype Dominant Recessive Codominant Additive Phenoset Diallelic Multiallelic Polyallelic Monomorphic Monoallelic Polymorphism Mutation Complex trait Multifactorial Polygenic Monogenic Mixed model Transmission probability Transition probability Epistasis Interaction Pleiotropy Quantitative trait locus Probit Logit Penetrance Transformation Scale of measurement Identity by descent Identity in state Kinship coefficient Haplotype Phase Multilocus genotype Allelic association Linkage disequilibrium Gametic phase disequilibrium
This work was supported in part by the following grants from the National Institutes of Health, USA: P41RR003655 (RCE) and R01CA137420 (JMS).
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