Authors:
Tomasz Gambin
1
;
Pawel Stankiewicz
2
;
Maciej Sykulski
3
and
Anna Gambin
3
Affiliations:
1
Warsaw University of Technology, Poland
;
2
Baylor College of Medicine, United States
;
3
University of Warsaw, Poland
Keyword(s):
aCGH, Segmentation, Noise robustness, Design optimization, DNA copy.
Related
Ontology
Subjects/Areas/Topics:
Algorithms and Software Tools
;
Bioinformatics
;
Biomedical Engineering
;
Model Design and Evaluation
;
Structural Variations
Abstract:
Array-comparative genomic hybridization (aCGH) technology enables rapid, high-resolution analysis of genomic rearrangements. With the use of it, genome copy number changes and rearrangement breakpoints can be detected and analyzed at resolutions down to a few kilobases. An exon array CGH approach proposed recently accurately measures copy-number changes of individual exons in the human genome. The crucial and highly non-trivial starting task is the design of an array, i.e. the choice of appropriate (multi)set of oligos. The success of the whole high-level analysis depends on the quality of the design. Also, the comparison of several alternative designs of array CGH constitutes an important step in development of new diagnostic chip. In this paper we deal with these two often neglected issues.
We propose new approach to measure the quality of array CGH designs. Our measures reflect the robustness of rearrangements detection to the noise (mostly experimental measurement error). The met
hod is parametrized by the segmentation algorithm used to identify aberrations. We implemented the efficient Monte Carlo method for testing noise robustness within DNAcopy procedure. Developed framework has been applied to evaluation of functional quality of several optimized array designs.
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