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. 2019 Nov 19;8(11):giz132. doi: 10.1093/gigascience/giz132

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© The Author(s) 2019. Published by Oxford University Press.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Figure 5: — Examples of newly identified CNEs upstream of AUTS2. UCSC genome browser screenshot shows a ∼1.5 Mb genomic region around AUTS2, a transcriptional regulator required for neurodevelopment. CNEs only detected in the RepeatFiller-subjected multiple alignment are marked as red tick marks. The zoom-in shows the 21-mammal alignment of one of the newly identified CNEs. While only the rhesus macaque sequence aligned to human before applying RepeatFiller, our tool identifies a well-aligning sequence for all 19 other mammals (red font). A dot represents a base that is identical to the human base. The RepeatMasker annotation (bottom) shows that this newly identified CNE overlaps a DNA transposon.