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 |