SNPnexus is a web-based annotation tool for the analysis and interpretation of both known and novel sequencing variations. Since its last release, SNPnexus has received continual updates to expand the range and depth of annotations provided. SNPnexus has undergone a complete overhaul of the underlying infrastructure to accommodate faster computational times. The scope for data annotation has been substantially expanded to enhance biological interpretations of queried variants. This includes the addition of pathway analysis for the identification of enriched biological pathways and molecular processes. We have further expanded the range of user directed annotation fields available for the study of cancer sequencing data. These new additions facilitate investigations into cancer driver variants and targetable molecular alterations within input datasets. New user directed filtering options have been coupled with the addition of interactive graphical and visualization tools. These improvements streamline the analysis of variants derived from large sequencing datasets for the identification of biologically and clinically significant subsets in the data. SNPnexus is the most comprehensible web-based application currently available and these new set of updates ensures that it remains a state-of-the-art tool for researchers. SNPnexus is freely available at https://www.snp-nexus.org.

中文翻译：

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SNPnexus：用于人类基因组序列变异功能注释的Web服务器（2020更新）。

SNPnexus是基于网络的注释工具，用于分析和解释已知和新颖的测序变异。自上次发布以来，SNPnexus不断进行更新，以扩大所提供注释的范围和深度。SNPnexus已对底层基础架构进行了全面检修，以适应更快的计算时间。数据注释的范围已大大扩展，以增强对所查询变体的生物学解释。这包括添加途径分析以鉴定丰富的生物学途径和分子过程。我们进一步扩展了可用于研究癌症测序数据的用户指导注释字段的范围。这些新添加的功能有助于调查癌症驱动变量和输入数据集中的可靶向分子改变。新的针对用户的过滤选项已经与交互式图形和可视化工具相结合。这些改进简化了对大型测序数据集衍生的变体的分析，以鉴定数据中生物学和临床上重要的子集。SNPnexus是当前最易理解的基于Web的应用程序，这些新的更新集确保了SNPnexus仍然是研究人员的最先进工具。SNPnexus可从https://www.snp-nexus.org免费获得。这些改进简化了对大型测序数据集衍生的变体的分析，以鉴定数据中生物学和临床上重要的子集。SNPnexus是当前最易理解的基于Web的应用程序，这些新的更新集确保了SNPnexus仍然是研究人员的最先进工具。SNPnexus可从https://www.snp-nexus.org免费获得。这些改进简化了对大型测序数据集衍生的变体的分析，以鉴定数据中生物学和临床上重要的子集。SNPnexus是当前最易理解的基于Web的应用程序，这些新的更新集确保了SNPnexus仍然是研究人员的最先进工具。SNPnexus可从https://www.snp-nexus.org免费获得。