TABLE 1.
Method | Advantages | Disadvantages | |
---|---|---|---|
Cells | Karyotyping | Whole‐genome analysis, Detection of aneuploidy, polyploidy, and other large chromosomal imbalances | Time consuming, Small resolution (High number of metaphases are needed), Cannot detect subkaryotypic variants |
FISH (fluorescent in situ hybridization) | Karyotype and information about mutations can be obtained | Probes must be known genes/mutations, Limited number of colors can be seen with fluorescent microscope, Not suitable for genome wide application | |
DNA | Microarray | Provide information on DNA regions with gains or losses | Cannot detect balanced rearrangements such as inversions |
Whole‐genome/exome sequencing | Very high and scalable throughput, High sensitivity and accuracy, Assess the whole genome at single‐base resolution | Expensive, Complex result interpretation | |
PCR/ddPCR | High resolution for the CNV and SNV detection, Cost‐effective | Cannot comprehensive screening of chromosomal aberrations |
Abbreviations: ddPCR, droplet digital PCR; CNV, copy number variation; SNV, single‐nucleotide variants.