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. 2017 Jan 31;18(2):308. doi: 10.3390/ijms18020308
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