Targeted sequencing	Sequencing of specific parts of the genome or sets of genes (multiple genes) at once
Whole-exome sequencing	Sequencing of all exonic (protein-coding) regions of the genome. It also includes some important flanking sequences
Whole-genome sequencing	Sequencing of the entire genome of an organism, including all the non-coding and coding parts in addition to the mitochondrial DNAs. It is the most comprehensive sequencing method among others
Long-read sequencing	Newer sequencing methods (also called third-generation technologies) with the ability to read and produce long sequences of DNA between 10,000 and 100,000 base pairs at one runtime. The method is useful, particularly for the structural variant detection and haplotype phasing
Gene panel	A specific set of genes selected for particular analysis purposes as well as sequencing methods or disease-specific gene profiling
PGx panel	A specific set of pharmacogenes or drug target genes selected for particular analysis purposes
Coverage	The number of times a portion of the genome is sequenced in a sequencing reaction. Frequently expressed as “depth of coverage” and numerically as 1X, 2X, 3X, etc.
Depth of coverage	See above
VCF file	Variant calling format is a standard variant reporting format which was invented during the 1,000 Genomes project. Such files display the genomic variants with their coordinates in the NGS results
Secondary findings	Unrelated genomic variants to the primary purpose of the test revealed during a sequencing run
Haplotype phasing	Determination of paternal or maternal origins (inheritance) of each chromosome while putting into haplotypes. In this way, the researchers can assign the alleles to the paternal and maternal chromosomes and obtain a comprehensive picture of genomic variants for the specific haplotype
	Statistical estimation of the haplotypes from the genotyping data is also called haplotype phasing
Allele imputation	A statistical method for inferring the genotypes that are not directly measured. Estimation of unobserved genotype, including genetic markers from known haplotype or reference genotype. Particularly beneficial in GWAS studies
VUS	A genetic variant for which the association with a specific phenotype cannot be determined definitively