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. Author manuscript; available in PMC: 2016 Aug 10.
Published in final edited form as: NPJ Genom Med. 2016 Aug 3;1:16027-1–16027-10. doi: 10.1038/npjgenmed.2016.27

Figure 1.

Figure 1

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 center) from each cohort is represented in a heatmap (intensity of color 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.