Table 1.

Glossary of terms

TermDefinition
AlleleA variant form of a gene’s locus, often refers to alternative nucleotide at an SNP location
Bonferroni correctionA type of statistical correction for multiple comparisons
CausalContributing to causing a disease or trait
ChromatinSubstance within a chromosome consisting of DNA and protein
EnhancerShort genomic DNA sequence where transcriptional modifiers can bind
Linkage disequilibrium (LD)Nonrandom association of one variant with another
LocusGenomic region flanked by recombination hotspots
PlasmidCircular DNA. In research, it is introduced into cells for transgenic expression of the cargo sequence
Single nucleotide polymorphism (SNP)A sequence variant consisting of a difference in a single nucleotide
Transcription factorA protein that controls rate of transcription by binding to DNA sequences