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Glossary

This glossary has been devised to include genomics and genetics terms particularly likely to be met in clinical practice.

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Title
Maternal Age Effect
Cousin marriage
X chromosome inactivation
Trisomy (Trisomic)
Trinucleotide (triplet) repeat
Translation
Transcription
Trait
Third-degree relative
Teratogen
Syndrome
Stratified medicine
Sporadic
Somatic cell
Single gene disorder
Sib/sibling
Second-degree relative
Sex chromosome
Recurrence risk
Prevalence
Presymptomatic testing
Prenatal diagnosis
Premutation
Polymorphism
Polymerase chain reaction (PCR)
Phenotype
Pharmacogenomics
Pharmacogenetics
Personalised medicine
Penetrance
Pedigree diagram
Patterns of inheritance
Offspring risk
New Mutation
Mutation
Multifactorial inheritance
Mosaicism (mosaic)
Monosomy (Monosomic)
Mitochondrial inheritance
Mitochondrial condition
Mitochondria
Mendelian inheritance
Marker
Malformation
X-linked recessive
X-linked dominant
Locus (loci)
Linkage analysis
Liability
Karyotype
Inheritance
Incidence
Homozygote (Homozygous)
Homologous
Heterozygote (Heterozygous)
Gonadal / germline mosaicism
Genomic medicine/healthcare
Genome-wide association study (GWAS)
Genome
Genotype
Genetics
Genetic susceptibility
Genetic predisposition
Genetic heterogeneity
Genetic counselling
Genetic
Gene
Gamete
FISH: fluorescence in situ hybridisation
First-degree relative
Family tree
Expressivity
Epigenetic
Empiric risk
Dysmorphic
DNA linkage studies
DNA
Direct mutation detection
Degree of relationship
De novo mutation
Cytogenetics
Copy Number Variation (CNV)
Consanguineous
Congenital
Companion diagnostic
Codon
Coding sequence
Clone
Clinical Validity
Clinical Utility
Clinical Genetics
Chromosome
Chorionic Villus Sampling
Carrier
Carrier testing
Carrier screening
Autosome
Autosomal recessive
Autosomal dominant
Anticipation
Amniocentesis
Alleles