ACMG	American College of Medical Genetics and Genomics
AI	artificial intelligence
arrayCGH	array comparative genome hybridization
CRISPR	clustered regularly interspaced short palindromic repeats
FISH	fluorescence in situ hybridization
HMW DNA	high-molecular-weight DNA
HPO	human phenome ontology
nCATS	nanopore Cas9-targeted sequencing
MS-MLPA	methylation-sensitive multiple ligation-based assay
NGS	next-generation sequencing
NIPT	noninvasive prenatal testing
OGM	optical genome mapping
ONT	nanopore-based sequencing
SNV	single nucleotide variation
SS	Sanger sequencing
STR	short tandem repeats
TORCH	toxoplasmosis, others, rubella, cytomegalovirus and herpes simplex virus