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. 2017 Nov 8;25(12):1354–1363. doi: 10.1038/s41431-017-0005-2

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© The Author(s) 2017

Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License, which permits any non-commercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. If you remix, transform, or build upon this article or a part thereof, you must distribute your contributions under the same license as the original. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/.

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Fig. 2 — Detected CNV segments by WISExome (blue), CLAMMS (orange), CODEX (green), XHMM (red), and CoNIFER (purple) for three known pathogenic CNVs according to the array analysis (brown). The region is annotated by the array probes (cyan), genes (citron), exons (gray), and target regions (pink). CNVs shown here are marked in Supplementary Table S1 as numbers 18 (a), 7 (b), and 19 (c). a CLAMMS failed to identify this region as aberrated. WISExome, XHMM, and CoNIFER mark roughly the same area as part of a CNV, while CODEX made a relatively small call. b WISExome, CLAMMS, and CODEX are in near-perfect agreement on the CNV. XHMM shows a very fragmented call, failing to identify several affected genes in between its calls. CoNIFER does not make a call. c WISExome, CLAMMS, and CODEX all identify the region to the right as aberrated, while the CNV should have been shorter according to the array. Both XHMM and CoNIFER fail to make a call.