| ADR | Adverse drug reaction |
| BRCAx | Test negative to BRCA1/2 mutation |
| BWA | Burrows-wheeler-alignment |
| Bp | Base pair |
| ChIP-seq | Chromatin immunoprecipitation |
| CPIC | Clinical pharmacogenetics implementation consortium |
| CTC | Circulating tumour cell |
| ctDNA | Cell-free tumour DNA |
| DNA-seq | DNA sequencing |
| DPWG | Dutch pharmacogenetics working group |
| FAP | Familial adenomatous polyposis coli |
| FFPE | Formalin fixed paraffin embedded |
| Gb | Giga base |
| GWAS | Genome wide association studies |
| HBOC | Hereditary breast and ovarian cancer |
| ICSI | Intra cytoplasmic sperm injection |
| Indels | Insertion or deletion (of DNA fragments) |
| IVF | In vitro fertilisation |
| Kb | Kilo base pair |
| KNMP | Royal Dutch pharmacists association |
| MIP | Molecular inversion probe |
| MMR | Mismatch repair |
| NGS | Next-generation sequencing |
| PCR | Polymerase chain reaction |
| PGD | Preimplantation genetic diagnosis |
| PGS | Preimplantation genetic screening |
| PGH | Preimplantation genetic haplotyping |
| PGx | Pharmacogenetics |
| RNA-seq | RNA sequencing |
| ROI | Regions of interest |
| SAM | Sequence-Alignment-MAP tools |
| SBS | Sequencing by synthesis |
| SMaRT | Spliceosome-mediated RNA trans-splicing |
| SMRT | Single molecule real-time |
| SNP | Singe nucleotide polymorphism |
| VUS | Variant of undetermined (unknown) clinical relevance |
| WES | Whole exome sequencing |
| WGS | Whole genome sequencing |