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 |