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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Statistical Genetic Terminology.

Robert C Elston¹, Jaya Satagopan², Shuying Sun³

¹Case Western Reserve University, Cleveland, OH, USA.

Methods in Molecular Biology (Clifton, N.J.)

|October 6, 2017

Summary

This summary is machine-generated.

This study defines common terminology in statistical human genetics, addressing evolving meanings driven by molecular discoveries. Establishing a shared vocabulary is crucial for effective communication between molecular geneticists, statistical geneticists, and statisticians in this increasingly computational field.

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

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Area of Science:

Statistical genetics
Human genetics
Bioinformatics

Background:

Statistical human genetics has a long history, with term meanings evolving due to molecular discoveries.
Discrepancies in terminology cause communication challenges between molecular geneticists, statistical geneticists, and statisticians.
Molecular genetics is increasingly reliant on in silico and statistical approaches.

Purpose of the Study:

To explain common terms in statistical genetics that have multiple meanings.
To define the specific terminology used in subsequent chapters.
To advocate for a well-defined, common terminology in the field.

Main Methods:

Review and definition of existing terms in statistical genetics.
Clarification of evolving terminology influenced by molecular discoveries.
Establishment of a standardized vocabulary for the discipline.

Main Results:

Identification of ambiguous and evolving terms in statistical genetics.
Provision of clear definitions for key terminology.
Highlighting the necessity for a unified lexicon.

Conclusions:

A common, well-defined terminology is essential for statistical human genetics.
Standardized language will improve interdisciplinary communication.
This work provides a foundation for consistent terminology in the evolving field.