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Abnormal Dosage of Ultraconserved Elements Is Highly Disfavored in Healthy Cells but Not Cancer Cells

Figure 1

Five types of CNVs.

(A) classicalCNVs are identified solely by variation among individuals in the copy number of genomic regions. (B) de nov°CNVs are present in an individual but not in the soma of either of the parents. (C) cancerCNAs are copy number alterations that occur specifically in the cancer cells (orange) of an individual and, therefore, are absent from the healthy cells of the same individual (black). In this study we required cancerCNAs to be recurrent between individuals. (D) somaticCNVs are defined by regions that vary in copy number among the healthy somatic cells of an individual. (E) iPSCNVs are defined by regions that vary in copy number within a population of iPS cells and which are not detectable in the fibroblast cells from which the iPS cells were derived.

Figure 1