| WGS |
Target whole genome |
Moderate to low |
Detects innovative mutations, has multiplex capabilities and high throughput diagnosis |
Costly and requires bioinformatics analysis support |
(22,23) |
| WES |
Target whole genome |
Moderate to low |
Detects innovative mutations, has multiplex capabilities and high throughput diagnosis |
Costly and requires bioinformatics analysis support |
(22,23) |
| Digital PCR |
Known and specific regions |
Relatively high |
Cheaper comparatively |
Low throughput and does not detect innovative targets |
(22,23) |
| ddPCR |
Known and specific regions |
High |
Rapid and sensitive |
Low throughput and does not detect innovative targets |
(22,23) |
| Allele-specific PCR |
Amplify rare mutant DNA sequences |
Lower |
Easy to use, budget friendly |
detect only small number of genomic sequences in sample |
(23) |
| NGS-amplicon |
Deep sequencing of entire genome |
High (some methods) |
Less expensive than other NGS methods |
Less extensive, cannot detect rearrangements without customizing assay |
(23) |
| CAPP-Seq |
Target only hybrid capture |
High |
Detects rearrangements and highly sensitive for SNV |
Less extensive than WGS or WES |
(23) |
| iDES enhanced CAPP-Seq |
Target hybrid capture and integrated error suppression |
High |
Has flexibility and coverage, highly reliable to detect all aberrations in a single assay |
Less extensive than WGS or WES |
(23) |
| TS |
Panel-size targeting |
Relatively high |
Detects innovative mutations, has multiplex capabilities and high throughput diagnosis |
Costly and requires bioinformatics analysis support |
(22,23) |