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Table 1 Glossary of Statistical Genetics Terms

From: Neural networks for genetic epidemiology: past, present, and future

Term

Definition

Allele

One member of a series of different forms of a gene

Association study

The use of case-control, cohort, or even family data to statistically relate genetic variations to a disease/phenotype

Chromosome

A singular, physical piece of DNA, which can contain many genes and regulatory elements

Epistasis

Gene-gene interaction; as a deviation from additivity in the effect of alleles at different loci with respect to their contribution to a phenotype

Gene

A heritable unit; a region of genomic sequence which is associated with regulatory, transcribed, and/or other functional regions

Genotype

Specific allele combinations for an individual

Genotyping

The experimental determination of sequence variations

Linkage study

The use of genotype and phenotype information from multiple biologically-related family members to determine whether a chromosomal region is preferentially inherited by offspring with the trait of interest

Locus

A fixed position on a chromosome

Mendelian disease

A genetic disease that is caused by a single locus, and displays a pattern of inheritance in line with Mendel's Laws

Phenotype

A measurable trait for an individual

Pedigree

Multiple biologically-related individuals with known familial relationships

Single Nucleotide Polymorphism (SNP)

A DNA sequence variation; the smallest unit of variation in the genome