Allele

Common disorder common variant (CDCV) hypothesis

Complex disease

Comparative genome hybridization (CGH)

Compound heterozygosity

Copy number variation (CNV)

Deep resequencing

Epigenetics

Epigenomics

Exome

Genetic association

Genome

Genome-wide association study
(GWAS)

Genotype

Haploid

Haplotype

Hemizygous

Heterozygous

Linkage

Methylation (of DNA)

Monogenic disorder

Penetrance

Pharmacogenetics

Phenocopy

Phenotype

Pleiotropy

Polymorphism (genetic)

Second- or next-generation sequencing (also referred to as high-throughput sequencing)

Single nucleotide polymorphism (SNP)

Structural variant

Synonymous nucleotide change/non-synonymous nucleotide change

Trinucleotide repeat expansion

X-inactivation