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. 2018 Jun 4;19:428. doi: 10.1186/s12864-018-4814-7

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© The Author(s). 2018

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided 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. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Fig. 1 — Overview of whole genome sequencing. a The numbers of SNVs and InDels detected in D3 and D4, 99.9% loci shared between the MZ twins. b There are 1736 SNVs or InDels specific in the disease sample D3, of which only 430 loci showing high confidence confirmed by Varscan are regarded as potential de novo SNVs/InDels. All loci are classified into 7 categories (upstream, downstream, intergenic, exonic, intronic, UTR5, UTR3) according to the relative position of nearby genes. The pie plot shows the number of loci and proportion of each category. c Normalized copy number profiles of D3 and D4. Each point shows a 5 kb window (chromosome 1) of sequencing reads normalized by GC-content and mappability using Control-FREEC