Statistical genetic terminology Journal Article


Authors: Elston, R. C.; Satagopan, J.; Sun, S.
Article Title: 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. © 2017, Springer Science+Business Media LLC.
Keywords: mutation; phenotype; allele; gene; genotype; linkage disequilibrium; haplotype; interaction; pleiotropy; quantitative trait locus; penetrance; transformation; phase; polymorphism; epistasis; site; locus; multifactorial; additive; allelic association; codominant; complex trait; diallelic; dominant; gametic phase disequilibrium; identity by descent; identity in state; logit; mixed model; monoallelic; monogenic; monomorphic; multiallelic; multilocus genotype; phenoset; polyallelic; polygenic; probit; recessive; scale of measurement; transition probability; transmission probability; kinship coefficient
Journal Title: Methods in Molecular Biology
Volume: 1666
ISSN: 1064-3745
Publisher: Humana Press Inc  
Date Published: 2017-01-01
Start Page: 1
End Page: 9
Language: English
DOI: 10.1007/978-1-4939-7274-6_1
PROVIDER: scopus
PUBMED: 28980238
DOI/URL:
Notes: Chapter 1 in "Statistical Human Genetics: Methods and Protocols. 2nd ed" (ISBN: 978-1-4939-7273-9) -- Export Date: 2 November 2017 -- Source: Scopus
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  1. Jaya M Satagopan
    141 Satagopan