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Fig. 8 Overview of aCGH analysis. (1) Array synthesis: Target genome sequence is used to select
suitable probe sequences that are synthesized on an array. (2-4) DNA preparation: Genomic DNA from
test (2) and reference (3) samples is isolated and differentially labeled with fluorescent dyes (4). DNA is
sheared to facilitate hybridization to the array. (5-6) Data acquisition and analysis: samples are hybridized
to the array together (5) and the array is processed and scanned. Signal output is processed to create a ratio
of fluorescence, which is proportional to the ratio of reference to test samples. This data is visualized using
graphical user interface applications (6).
rearrangement is required prior to aCGH analysis. Novel rearrangements can there-
fore be generated and characterized immediately.
aCGH analysis is however not suitable for the analysis of very complex rearran-
gements. Duplications present in the background of a deficiency strain can be
difficult to interpret as the aCGH approach does not give any positional information
about where possible insertions have occurred. Additionally rearrangements that do
not result in CNV, such as inversions, cannot be analyzed using this method.
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