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. 2021 May 19;11:10606. doi: 10.1038/s41598-021-89904-y

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© The Author(s) 2021

Open AccessThis 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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/.

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Bias test of BIOS and GTEx models. (A) Each violin represents the distribution of expected GO Molecular Function term ranks based on 10 $\times$ random resampling of BIOS ASE-SNVs using the same number of predicted ASE-SNVs. Each X indicates the observed rank of a GO Molecular Function term in the gene enrichment profile of BIOS ASE-SNVs correctly predicted by the GTEx model. For instance, the expected rank of endopeptidase activity (GO:0004175) lies around 3–4, and was observed at rank 4. (B) Each violin represents the distribution of expected GO Molecular Function term ranks based on 10 $\times$ random resampling of GTEx ASE-SNVs using the same number of predicted ASE-SNVs. Each X indicates the observed rank of a GO Molecular Function term in the gene enrichment profile of GTEx ASE-SNVs correctly predicted by the BIOS model. For instance, the expected rank of serine-type peptidase activity (GO:0008236) lies around 2, and was observed at rank 3. Plot was produced by R⁷⁰ version 3.3.0 using packages ggplot2⁷¹ (v2.2.1), gridExtra (v2.3) and stringr (v1.3.1).