Review Article
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] |
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WES, whole-exome sequencing; WG, whole genome.
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