Genomics Taxonomy Terms Table of Contents

Genome Foundations

Genome
Allele
Chromosome
Epigenetics
Exon
Gene
Genetics
Genotype
Germ Line
Genomics
Heterozygous
Homozygous
Intron
Loss of Heterozygosity (LOH)
Microbiome
Microsatellite
Wild-type gene
Subcategory: Clinical Genomics
Cascade Genetic Testing
Penetrance
Pathognomic
Precision Medicine
Pharmacogenomics
Phenocopy
Phenotype

Mode of Inheritance

Autosomal Dominant
Autosomal Recessive
X-Linked Dominant
X-Linked Recessive
Mitochondrial
Subcategory: Family History
Pedigree
Proband

Biomarkers

Susceptibility/Risk Biomarker
Diagnostic Biomarker
Monitoring Biomarker
Prognostic Biomarker
Predictive Biomarker
Pharmacodynamic/Response Biomarker
Safety Biomarker

Biomarker Testing

Genetic Testing
Cytogenetics
Fluorescence in situ hybridization (FISH)
Immunohistochemistry (IHC)
Karyotype
Liquid Biopsy
Multi-Gene Panel Testing
Polygenic Risk Score
Sanger Sequencing
Whole Exome Sequencing
Whole Genomic Sequencing

Variant

Deletion
Duplication
Frameshift
Insertion
Large Genomic Rearrangements
Microsatellite Instability (MSI)
Missense
Nonsense
Polymorphism
Single Nucleotide Polymorphism (SNP)
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
De Novo 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
Unanticipatable
Secondary Finding
Discovery Finding