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