Table 1.
Techniques | Limit of Detection | Number of Targets | Type of Alteration Detection | Reference |
---|---|---|---|---|
PCR-based approaches | ||||
COLD-PCR | 0.10% | 1 | SNV, indels | [34] |
PNA-LNA | 0.10% | 1 | SNV, indels | [35] |
Probes improvement | 0.01%–0.10% | 1 | SNV, indels | [36,37] |
Digital PCR | 0.01%–0.10% | 1 to 4 | SNV, indels, CNV | [38,39,40] |
BEAMing | 0.01% | 1 to 20 | SNV, indels | [41,42] |
NGS-based approaches | ||||
Deep sequencing | 0.02% | Panel | SNV, indels | [43] |
Base position-error rate correction | 0.003% | Panel | SNV, indels | [44] |
TAm-Seq | 2.00% | Panel | SNV, indels | [45] |
CAPP-Seq | 0.02% | Panel | SNV, indels, CNV, rearrangements | [46] |
cSMART | 0.01% | Panel | SNV, indels, rearrangements | [47,48] |
Digital sequencing | 0.10% | Panel | SNV, indels, CNV, rearrangements | [49] |
Bias-Corrected Targeted NGS | 0.10% | Panel | SNV, indels, CNV, rearrangements | [50] |
SERS-nanotags | 0.10% | 1 to 3 | SNV | [51] |
UltraSEEK | 0.10% | 1 to 7 | SNV, indels | [52] |
PCR, polymerase chain reaction; COLD-PCR, coamplification at lower denaturation temperature PCR; PNA-LNA, peptide nuclei acid-locked nucleic acid; BEAMing, beads, emulsion, amplification, and magnetics; NGS, next-generation sequencing; TAm-Seq, tagged-amplicon deep sequencing; CAPP-Seq, cancer personalized profiling by deep Sequencing; SERS, surface-enhanced raman spectroscopy; UltraSEEK, high-throughput, multiplexed, ultrasensitive mutation detection; SNV, single nucleotide variation; CNV, copy number variation.