CI	Confidence interval
CV	Coefficient of variation
DBS	Dried blood spot
GIAB	Genome in a bottle
LUMC	Leiden University Medical Center
LuVDS	LUMC Healthy Donor Service, in Dutch: LUMC Vrijwillige Donoren Service
NBS	Newborn screening
NGS	Next-generation sequencing
nWMO	Non-Medical Research Involving Human Subjects act
qPCR	Quantitative polymerase chain reaction
SCID	Severe combined immunodeficiency
SMA	Spinal muscular atrophy
TREC	T-cell receptor excision circle
WES	Whole exome sequencing
WGS	Whole genome sequencing
XLA	X-linked agammaglobulinemia