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. 2016 Aug 3;1:16027. doi: 10.1038/npjgenmed.2016.27

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Copyright © 2016 The Author(s)

This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

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Sequence context of regions with de novo mutations. (a) Transition (Ti) to transversion (Tv) ratio of different kinds of de novo mutations found in: germline of ASD, germline of Dutch population controls, somatic events of ASD and lymphocyte-derived cell line (LCL) of ASD. (b) Sequence context of the base substitution mutation spectra for different de novo mutations. Each of the 96 mutated trinucleotides (mutated position at centre) from each cohort is represented in a heatmap (intensity of colour correspond to frequency of each mutation). The 5′ base to the mutated site is shown on the vertical axis, while the 3′ base is shown on the horizontal axis.