Table 4. Common techniques for the genomic assessment of stem-cell-derived tissues.

Technique	Sensitivity	Advantages	Limitations
Cytogenetics
GTG banding215	Can detect numerical and structural karyotype aberrations >5Mb	Relatively cost-effective. Capable of detecting most prevalent karyotype aberrations. Can detect both numeric and structural alterations.	Low resolution (larger than 5Mb). Only mitotic cells can be assessed. Not sensitive enough to detect mosaicism if prevalence is less than 6-10%. Labour-intensive
Fluorescent in situ hybridization216	Can detect numerical and structural karyotype aberrations >1-2Mb	Applicable for analysis of mitotic and non-mitotic samples. Higher resolution (1-2Mb) than alternative cytogenetic techniques.	Low specificity for rare, small or complex chromosomal rearrangements. Can only detect aberrations in regions complementary of the probe used. Labour intensive and expensive.
Nucleic-acid-based techniques
RT-PCR217	High sensitivity and specificity for the targeted detection of genetic abnormalities	Highly sensitive and specific. High-throughput	Only targeted abnormalities can be detected.
Next-generation sequencing
Whole-exome Sequencing218	Defines the genome of exonic DNA regions, allowing the detection of single nucleotide variants, insertions, deletions, copy-number variants and rearrangements	Around a half to a fifth the price of whole-genome sequencing. Highly sensitive (at the single-nucleotide level).	Low throughput Doesn’t detect mutations. Only detects abnormalities in exomic DNA regions.
Wholegenome sequencing218	Determines the whole genomic sequencing of coding and non-coding regions of DNA at the single nucleotide base level	Allows detection of mutations in the whole genome. Highly sensitive (at the single-nucleotide level).	High cost Low throughput