| ACMG | American College of Medical Genetics and Genomics |
| ADME | Absorption, Distribution, Metabolism, and Excretion |
| CADD | Combined Annotation-Dependent Depletion |
| CAP | College of American Pathologists |
| CNV | Copy Number Variation |
| CPIC | The Clinical Pharmacogenetics Implementation Consortium |
| DPWG | Dutch Pharmacogenetics Working Group |
| FDA | Food and Drug Administration |
| FGV | Functional Genetic Variation |
| GWAS | Genome-Wide Association Studies |
| IF | Incidental Findings |
| InDel | Insertion–Deletion |
| MAF | Minor Allele Frequency |
| NCI | National Cancer Institute |
| NGS | Next Generation Sequencing |
| PDG | Pharmacogenomics Dosage Guidelines |
| PGRN | The Pharmacogenomics Research Network |
| PGx | Pharmacogenomics |
| PharmCAT | Pharmacogenomics Clinical Annotation Tool |
| PharmGKB | Pharmacogenomics Knowledge Base |
| Provean | Protein Variation Effect Analyzer |
| SNP | Single Nucleotide Polymorphism |
| SNV | Single Nucleotide Variation |
| SV | Structural Variants |
| VAT | Variant Annotation Tool |
| VarAFT | Variant Annotation and Filter Tool |
| VCF | Variant Call Format |
| VIP | Very Important Pharmacogene |
| VUS | Variants with Unknown clinical Significance |
| WES | Whole Exome Sequencing |
| WGS | Whole Genome Sequencing |