Genetic terminology Journal Article


Authors: Elston, R. C.; Satagopan, J. M.; Sun, S.
Article Title: Genetic terminology
Abstract: Common terms used in 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 and statistical geneticists often have difficulty understanding each other. It is, therefore, imperative, now that so much of molecular genetics is becoming an in silico statistical science, that we have well-defined, common terminology. © 2012 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
Journal Title: Methods in Molecular Biology
Volume: 850
ISSN: 1064-3745
Publisher: Humana Press Inc  
Date Published: 2012-01-01
Start Page: 1
End Page: 9
Language: English
DOI: 10.1007/978-1-61779-555-8_1
PROVIDER: scopus
PUBMED: 22307690
PMCID: PMC4450815
DOI/URL:
Notes: Chapter 1 in "Statistical Human Genetics: Methods and Protocols" (ISBN: 978-1-61779-554-1) --- Export Date: 2 April 2012 - Source: Scopus
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  1. Jaya M Satagopan
    141 Satagopan