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Glossary of Statistical Genetics Terms |
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| Term |
Definition |
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| 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 |
Motsinger-Reif and Ritchie BioData Mining 2008 1:3 doi:10.1186/1756-0381-1-3 |
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