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. 2016 May;26(5):567–578. doi: 10.1101/gr.200527.115

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© 2016 Destouni et al.; Published by Cold Spring Harbor Laboratory Press

This article is distributed exclusively by Cold Spring Harbor Laboratory Press for the first six months after the full-issue publication date (see http://genome.cshlp.org/site/misc/terms.xhtml). After six months, it is available under a Creative Commons License (Attribution-NonCommercial 4.0 International), as described at http://creativecommons.org/licenses/by-nc/4.0/.

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Figure 2. — Haplarithmisis unveils segmental imbalances across the genome. (A) Expected haplarithm patterns for segmental duplication (left) and deletion (right) of paternal in origin. For a detailed overview of haplarithmisis, see Zamani Esteki et al. (2015). (B) A Circos plot representing interpreted copy number imbalances for each cell. (C) siCHILD-determined profiles for Chr 3, Chr 5, and Chr 20. In each panel from top to bottom, respectively, we depict the interpreted copy-number profile, the paternal and maternal haplarithms, and the normalized logR-values. (D) A model illustrating how the detected segmental aberrations may arise.