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