Table 1.
Glossary.
| Term | Definition |
|---|---|
| Candidate gene | A gene that is hypothesized to cause disease |
| Copy number variant (CNV) | Variations in the number of copies of a gene or gene segment described in terms of deletion (fewer copies than average) or duplication (more copies than average) |
| Genetics | The study of particular heritable traitsa |
| Genomics | The study of genes and gene products (e.g., proteins or messenger RNA)a |
| Genome-wide association study (GWAS) | A study that examines the many common DNA variants, typically in a large sample, to identify associations between specific variants and a particular traita |
| Haplotype | A sequence of consecutive alleles that are close together on a strand of DNA and are likely to be inherited together |
| Hardy–Weinberg equilibrium (HWE) | A mathematical principle stating that the frequency of a particular genetic variation will remain constant across a population from one generation to the next, assuming the population is intermingling at random, and as such is considered a mathematical “ideal” rather than a practical limitation (Wittke-Thompson, Pluzhnikov, & Cox, 2005) |
| Oncogene | A gene that is associated with the development of cancer |
| Phenotype | Observable characteristics of the interaction between the environment and the genotype |
| Proto-oncogene | A gene with the potential to become an oncogene with overexpression or mutation |
| Single nucleotide polymorphism (SNP) | A variation in a single DNA base pair occurring in at least 1% of the population |