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. 2023 Mar 22;14:1589. doi: 10.1038/s41467-023-37266-6

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© The Author(s) 2023

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. 5 — A IGV snapshot of three intronic variant positions (GRCh38—chr15:g.44715421A>G, chr15:g.44715422G>T, chr15:g.44715702G>C) found to be associated with alternate acceptor and donor usage that leads to the formation of unknown transcript products. This result was found using the default splice variant window parameter (i2e3). B Zoomed in view of the variants identified by RegTools that are associated with alternate acceptor and donor usage. Two of these variant positions flank the acceptor site and one variant flanks the donor site of the area that is being affected. C Sashimi plot visualizations for samples containing the identified variants that show (1) alternate acceptor usage (red) or (2) alternate donor usage (orange).