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. 2016 Sep 12;6:32406. doi: 10.1038/srep32406

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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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(a) The sequence logo of poly-A motifs in the human reference genome sequence GRCh37 reproduces well the distribution of nucleotides from earlier reports (sequence logo at the top). Genetic variants can change the poly-A motif to another sequence that is known to act as a poly-A signal (i.e. “altered” motifs, sequence logo at the bottom-left of the panel), or they can disrupt the poly-A motif such that the variant sequence no longer corresponds to any reported poly-A signal (“degraded” motifs, sequence logo to the bottom-right). (b) When analysing the distribution of distances between poly-A signals and the closest PCS, the 235 poly-A motifs altered by genetic variants (blue distribution) localize slightly but significantly (p-value 0.016 MWW test) closer to the PCS than the 214 poly-A motifs that are degraded by SNPs (red distribution).