. Author manuscript; available in PMC: 2010 May 13.

Published in final edited form as: Trends Genet. 2008 Apr 2;24(5):238–245. doi: 10.1016/j.tig.2008.03.001

Table 2. Genomic technologies for identifying structural variation.

Technology	Genome-wide	High-throughput	Detects balanced variants	Detects breakpoint sequences	Ref.
Quantitative amplification (e.g. MAPH^a, MLPA^b, qPCR^c)	−	++	−	−	70,71
Microarray (e.g. SNP genotyping, CGH)	+	+	−	−	6,72
Read-pair sequencing	+	−	+	+	10,12
Assembly comparisons	+	−	+	++	73,74

Multiplex Amplified Probe Hybridisation

Multiplex Ligation Probe Amplification

quantitative-Polymerase Chain Reaction