Table 2.
Presentation of the major applications of TGS as well as the most suitable sequencing platform for each research interest.
| Method | Application | Research Interest | Optimal Technology |
|---|---|---|---|
|
DNA
sequencing |
Whole-genome sequencing | De novo genome assembly | PacBio/ONT |
| Mutational analysis | NGS | ||
| Extended structural variations | PacBio/ONT | ||
| Haplotyping | PacBio/ONT | ||
| DNA modifications | PacBio/ONT | ||
| Whole-exome sequencing | Detection of small indels | NGS | |
| Detection of SNPs | NGS | ||
| Detection of CNVs | PacBio/ONT | ||
| Mutational analysis | NGS | ||
| Targeted sequencing | Construction of gene panel for SNPs | NGS | |
| Construction of gene panel for small indels | NGS | ||
| Construction of gene panel for extended structural variations | PacBio/ONT | ||
| Identification of novel mRNA isoforms | PacBio/ONT | ||
| Detection of infectious diseases | PacBio/ONT | ||
| Whole-transcriptome sequencing |
Identification of full-length transcripts | PacBio/ONT | |
| Characterization of fusion transcripts | PacBio/ONT | ||
| Direct RNA sequencing | Direct mRNA sequencing | Detection of RNA modifications | ONT |
| Detection of full-length transcripts | ONT | ||
| Characterization of fusion transcripts | ONT | ||
| Characterization of RNA viruses | ONT | ||
| Direct miRNA sequencing | Identification of novel miRNAs | ONT | |
| Detection of specific RNA modifications | ONT |