RESEARCH PAPER
A stable density approach to probe selection for a custom aCGH design
 
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Publication date: 2014-10-28
 
 
BioTechnologia 2011;92(3):283-295
 
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ABSTRACT
Usage of the custom aCGH design provides the ability to detect copy number alternations (CNAs) with a very high
resolution in almost every genomic region. Since the detection rate of CNAs greatly depends on the quality of the
design, it is crucial to ensure the optimal probe coverage for the regions of interests. In this paper, we focus on
the problem of finding the best possible probe coverage for a given region and a predefined set of probes.
The lack of available probes at some places is a considerable problem which may lead to the decrease in the detection
rate of CNAs. We propose a new approach towards the generation of coverage with stable probe density.
The developed algorithms attempt to compensate the lack of probes in poorly covered regions by selecting
additional probes from their nearest neighborhood. Here we introduce evaluation measures that reflect density
stabilization along the covered region. Finally, we use these measures to compare our algorithms with other standard
approaches for coverage preparation.
eISSN:2353-9461
ISSN:0860-7796
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