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. 2022 Sep 29;13:5357. doi: 10.1038/s41467-022-32887-9

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Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 1 — a Examples of transcriptome sequencing alignment around variant causing intron retention, as well as common patterns of false positives. b Overview of the proposed framework for detecting intron retention associated variants from raw sequencing data registered in Sequencing Read Archive. Downloaded sequence data is processed in on-premise or public cloud computing environment and identified IRAVs are transferred to the IRAV database and provided to the community.