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An optimization framework for unsupervised identification of rare copy number variation from SNP array data

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Figure

Figure 1Overview of the proposed CNV detection algorithm
Figure 2CNVs identified by ÇOKGENCNVs identified by ÇOKGEN. For each marker position on every chromosome, the gain or loss frequencies in the HapMap samples are plotted
Figure 3Frequency distribution of CNVs by ethnicityFrequency distribution of CNVs by ethnicity
Figure 6MLPA profiles and corresponding raw copy signals with class assignments for two CNVs not previously reported
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