PCR-based
|
Nested real-time PCR
|
Known point mutations such as KRAS, EGFR, and PIK3CA hotspot alterations
|
Ease of use, lowest cost
|
Lower sensitivity, only detect limited genomic loci
|
[70]
|
ARMS/Scorpion PCR
|
[116]
|
PCR-SSCP
|
[117]
|
Mutant allele-specific PCR
|
[118]
|
Mass spectrometry
|
[119]
|
Bi-PAP-A amplification
|
[120]
|
Digital PCR
|
BEAMing
|
Known point mutations, genomic rearrangements
|
High sensitivity
|
Only detect limited genomic loci
|
[59]
|
Droplet-based digital PCR
|
[56]
|
Microfluidic digital PCR
|
[10]
|
Targeted deep sequencing
|
SafeSeq
|
Selected SNVs, CNVs, and rearrangements across targeted regions
|
High sensitivity, relatively inexpensive
|
Less comprehensive than WES methods
|
[64]
|
TamSeq
|
[57]
|
Ion-AmpliSeq™
|
[66, 68]
|
CAPP-Seq
|
[68]
|
OnTarget
|
[121]
|
Whole-genome sequencing
|
Digital karyotyping
|
Genome-wide SNVs, CNVs, and rearrangements
|
Broad application
|
Expensive
|
[73]
|
PARE
|
[70, 72, 74]
|