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. 2018 Jul 5;28(10):1039–1041. doi: 10.1038/s41422-018-0061-3

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© IBCB, SIBS, CAS 2018

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits 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. 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/4.0/.

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Fig. 1 — a Chinese NTD cases do not carry more rare D-mis variants than controls from the 1KGP. b The distribution of rare LoF variants shows significantly more LoF variants for Chinese NTDs than controls. c–e Significantly more SLoFVs in NTD samples than their matched controls for Chinese (c), Caucasian in USA (d), and Middle Eastern (ME) cohorts (e). f Combined data shows significantly more SLoFVs for NTDs than controls from 1KGP. g Significantly more SLoFVs were found in anencephalic (AE) than spina bifida (SB) samples. h Odds ratios of SLoFVs in NTDs. The blue arrowhead represents the median number of SLoFVs in SB and the red arrowhead represents the median number of SLoFVs in AE. The density (y-axis) at each point is the average contribution from each of the kernels at that point