ABI	Applied Biosystems
BAM	Binary alignment/map
BMI	Body mass index
CEU-MARS	Caucasian major allele reference sequence
CVD	Cardiovascular disease
CYP	Cytochrome P450
dnSNP	Database of Single Nucleotide Polymorphisms
ER	Estrogen receptor
hg	Human reference genome
HRT	Hormone replacement therapy
IGV	Integrative Genome Viewer
MINDACT	Microarray In Node negative Disease may Avoid Chemo Therapy
MRC	Medical Research Council
MRE11	Meiotic recombination 11
MTHFR	Methylene tetrahydrofolate reductase
MTR	Methionine synthase
MTRR	Methionine synthase reductase
MUC1	Mucin 1
NBN	Nibrin
NGS	Next generation sequencing
NRF	National Research Foundation
PCR	Polymerase chain reaction
PR	Progesterone receptor
PSGT	Pathology-supported genetic testing
RAD50	Double strand break repair protein
SAM	Sequence alignment/map
SHIP	Strategic Health Innovation Partnerships
SNPs	Single nucleotide polymorphisms
TMAP	Torrent mapping alignment
TVC	Torrent Variant Caller
VCF	Variant call files
VUS	Variant of uncertain clinical significance
WES	Whole exome sequencing