Genomics Taxonomy Terms Table of Contents

Genome Foundations

Genome
Allele
Amino Acid
Autosome
Base Pair
Chromosome
Copy Number Variation
Deoxyribonucleic Acid (DNA)
Double Helix
Epigenetics
Epigenome
Exon
Gene
Gene Expression
Genetics
Genotype
Germ Line
Genomics
Haplotype
Heterozygous
Homologous Recombination
Homozygous
Intron
Karyotype
Locus
Loss of Heterozygosity (LOH)
Methylation
Microbiome
Microsatellite
Microsatellite Instability (MSI)
Mosaicism
Nucleotide
Pedigree
Promoter
Protein
Pseudogene
Ribonucleic Acid (RNA)
Telomere
Tumor Suppressor Gene
Variable Expressivity
Wild-type gene
Subcategory: Clinical Genomics
Cascade Genetic Testing
Penetrance
Pathognomic
Precision Medicine
Pharmacogenomics
Phenocopy
Phenotype

Mode of Inheritance

Autosomal Dominant
Autosomal Recessive
First Degree Relative
Mitochondrial
Second Degree Relative
Third Degree Relative
X-Linked Dominant
X-Linked Recessive
Subcategory: Family History
Consanguinity
Founder Effect
Pedigree
Proband

Biomarkers

Susceptibility Biomarker
Diagnostic Biomarker
Monitoring Biomarker
Prognostic Biomarker
Predictive Biomarker
Pharmacodynamic Biomarker
Safety Biomarker

Biomarker Testing

Carrier
Cell Free DNA
Cytogenetics
DNA Sequencing
Fluorescence in situ hybridization (FISH)
Germline Testing
Immunohistochemistry (IHC)
Karyotype
Liquid Biopsy
Multi-Gene Panel Testing
Multiplex ligation-dependent probe amplification
Next-Generation Sequencing (NGS)
Polygenic Risk Score
Sanger Sequencing
Somatic Testing
Somatic and Germline Paired Testing
Variant Allele Frequency (VAF)
Whole Exome Sequencing
Whole Genomic Sequencing

Variant

De Novo Variant
Deletion
Duplication
Frameshift
Insertion
Large Genomic Rearrangements
Microsatellite Instability (MSI)
Missense
Nonsense
Point Variant
Polymorphism
Single Nucleotide Polymorphism (SNP)
Single Nucleotide Variant
Substitution

Variant Subcategories

Subcategory: Chromosomal Rearrangement
Inversion
Deletion
Duplication
Numerical
Translocation

Germline Variant Classification
Deleterious
Pathogenic Variant
Likely Pathogenic Variant
Variant of Uncertain Significance
Likely Benign Variant
Benign Variant

Somatic Variants
Somatic
Driver Variants
Passenger Variants
Copy Number Variation

Somatic Variant Classification (based on actionability)
Tier I
Tier II
Tier III
Tier IV

Incidental Finding

Anticipatable
Discovery Finding
Secondary Finding
Secondary Genomic Finding
Unanticipatable