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. 2015 Mar 27;7(1):30. doi: 10.1186/s13073-015-0152-4

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© Deelen et al.; licensee BioMed Central. 2015

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 use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Example ASE effects and direction of ASE effects over different functional classes. (a) ASE of rs12203592 located within the IRF4 gene. The T allele is more abundantly expressed and increases the risk of non-melanoma skin cancers. (b) rs72550870, located in MASP2, shows lower expression for the alternative C allele, known to cause MASP2 deficiency. (c) All significant ASE SNPs were annotated with functional class information. As expected, nonsense mutations often lead to lower expression levels, in contrast to ASE effects in other functional classes.