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Box 1 Glossary of terms

From: High-throughput genomic technology in research and clinical management of breast cancer. Evolving landscape of genetic epidemiological studies

Genetic epidemiology The study of the relationship between variation in specific genes and disease risk
Genomic epidemiology The study of the relationship between variation across the entire human genome and disease risk
Haplotype A set of closely linked alleles that tend to be inherited together
HapMap project A multi-country effort to identify and catalog common genetic variants in humans and work out their haplotype structures
Linkage disequilibrium The phenomenon that alleles physically close to each other tend to be correlated and are co-inherited as a block of DNA segment
Microsatellite A type of DNA sequence variation where there is tandem repetition of a short DNA sequence (usually two to four nucleotides)
Penetrance Probability that a deleterious gene variant will actually result in disease
Polymorphism Variation in DNA sequence among individuals
Single nucleotide polymorphism A type of DNA sequence variation in which a single nucleotide (A, T, C, or G) in the genome sequence is altered