A full range of structural variation can be detected from NGS data, including translocations, CNVs, and indels. It is important to note, however, that there is currently no single informatic method capable of identifying the full range structural DNA variation, and multiple complementary tools are required for robust variant detection. Further, the use of any software for structural variation identification in the clinical laboratory will require extensive validation, as such methods perform differently depending on assay design (targeted vs. whole genome) and average DOC.
