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Chunk #34 — RESULTS — Sample collection and characterization

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QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.
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We used 18 samples, including three normal controls, that were characterized using different cytogenetics and molecular genetics technologies (Table 1). Nine samples have been previously characterized using FISH (35–40), one sample containing a duplication was characterized by FISH (Mirza et al., manuscript in preparation). Five samples (No. 14–18) were characterized using molecular genetics analysis (Supplementary Data, Materials and Methods S1 for details) and for these samples the study was conducted as a blind experiment.