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Table 1 Summary of some current technologies, their main applications, and some representative references

From: Emerging concepts in liquid biopsies

Approach Purpose Reference
Targeted ctDNA approaches
Digital PCR, BEAMing (beads, emulsion, amplification, and magnetics) Detection of specific mutations [13, 14]
PARE (personalized analysis of rearranged ends) Detection of specific structural chromosomal rearrangements [15, 16]
Gene panels, TAm-Seq (tagged amplicon deep sequencing), CAPP-Seq (cancer personalized profiling by deep sequencing), Safe-SeqS (Safe-Sequencing System) Detection of mutations in a predefined gene panel [17, 19, 22, 29, 60, 97]
Untargeted ctDNA approaches
Whole-exome sequencing Analysis of all protein coding genes; copy number alterations [20]
Whole-genome sequencing Copy number alterations; dependent on sequence depth identification of mutations [21, 22, 24]
Circulating tumor cells
Whole-exome sequencing Analysis of all protein coding genes; copy number alterations [105, 106]
Whole-genome sequencing; array-CGH Copy number alterations [26, 34, 88, 106]
In situ RNA-FISH Detection of specific transcripts [37]
qRT-PCR Evaluation of specific transcripts [40]
Microfluidics, Arrays Transcriptional profiling [35, 37, 38]
Exosomes
DNA Tumor genome profiling [45, 49]
RNA Transcription profiling [45, 49]
Protein Protein marker analysis [50]