Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives

Table 2

Principal clinical applications of NGS technologies to the study of the molecular basis of human diseases.

Clinical application	NGS approaches
Variant detection	Long PCR [15, 18, 19]; Multiplex PCR [16, 20–30]; Microdroplet PCR [31, 32]; WES [47–50, 53–59, 67–75]; Targeted capture [86–88, 91–96]; WGS [110–112, 115–118]
Prenatal diagnosis	WES [60, 64–70]; Targeted capture [101]
Circulating tumor cells analysis	WES [80]
Pharmacogenomics	WES [81–83]; Targeted capture [97–99]; WGS [113, 114]
Gene expression regulation	Microdroplet PCR [38]; WG bisulfite sequencing [132–139]; RNA-seq [156–162]

WES, whole-exome sequencing; WG, whole genome.