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

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]

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]

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]

DNA

Tumor genome profiling

[45, 49]

RNA

Transcription profiling

[45, 49]

Protein

Protein marker analysis

[50]