Summary Expression quantitative trait loci (eQTLs) characterize the associations between genetic variation and gene expression to provide insights into tissue-specific gene regulation. Interactive visualization of tissue-specific eQTLs or splice QTLs (sQTLs) can facilitate our understanding of functional variants relevant to disease-related traits. However, combining the multi-dimensional nature of eQTLs/sQTLs into a concise and informative visualization is challenging. Existing QTL visualization tools provide useful ways to summarize the unprecedented scale of transcriptomic data but are not necessarily tailored to answer questions about the functional interpretations of trait-associated variants or other variants of interest. We developed FIVEx, an interactive eQTL/sQTL browser with an intuitive interface tailored to the functional interpretation of associated variants. It features the ability to navigate seamlessly between different data views while providing relevant tissue- and locus-specific information to offer users a better understanding of population-scale multi-tissue transcriptomic profiles. Our implementation of the FIVEx browser on the EBI eQTL catalogue, encompassing 16 publicly available RNA-seq studies, provides important insights for understanding potential tissue-specific regulatory mechanisms underlying trait-associated signals. Availability and implementation A FIVEx instance visualizing EBI eQTL catalogue data can be found at https://fivex.sph.umich.edu. Its source code is open source under an MIT license at https://github.com/statgen/fivex. Supplementary information Supplementary data are available at Bioinformatics online.

中文翻译：

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FIVEx：跨公共数据集的交互式 eQTL 浏览器


摘要 表达数量性状位点 (eQTL) 描述了遗传变异和基因表达之间的关联，为组织特异性基因调控提供了见解。组织特异性 eQTL 或剪接 QTL (sQTL) 的交互式可视化可以促进我们对与疾病相关性状相关的功能变异的理解。然而，将 eQTL/sQTL 的多维性质结合到简洁且信息丰富的可视化中具有挑战性。现有的 QTL 可视化工具提供了有用的方法来总结前所未有的转录组数据规模，但不一定适合回答有关性状相关变异或其他感兴趣变异的功能解释的问题。我们开发了 FIVEx，一种交互式 eQTL/sQTL 浏览器，具有专为相关变体的功能解释而定制的直观界面。它能够在不同的数据视图之间无缝导航，同时提供相关的组织和位点特异性信息，使用户更好地了解群体规模的多组织转录组图谱。我们在 EBI eQTL 目录上实施的 FIVEx 浏览器包含 16 项公开的 RNA-seq 研究，为理解性状相关信号背后的潜在组织特异性调控机制提供了重要的见解。可用性和实施​​ 可在 https:// Fivex.sph.umich.edu 找到可视化 EBI eQTL 目录数据的 FIVEx 实例。其源代码是根据 MIT 许可证开源的，网址为 https://github.com/statgen/ Fivex。补充信息 补充数据可在生物信息学在线获取。