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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