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SNPnexus:一个用于人类基因组序列变异功能注释的网络服务器(2020 年更新)。

SNPnexus: a web server for functional annotation of human genome sequence variation (2020 update).

机构信息

Centre for Cancer Biomarkers and Biotherapeutics, Barts Cancer Institute, Queen Mary University of London, London EC1M 6BQ, UK.

出版信息

Nucleic Acids Res. 2020 Jul 2;48(W1):W185-W192. doi: 10.1093/nar/gkaa420.

DOI:10.1093/nar/gkaa420
PMID:32496546
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7319579/
Abstract

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.

摘要

SNPnexus 是一个基于网络的注释工具,用于分析和解释已知和新的测序变异。自上次发布以来,SNPnexus 不断更新,以扩大提供的注释范围和深度。SNPnexus 对底层基础设施进行了全面检修,以适应更快的计算时间。数据注释的范围大大扩大,以增强对查询变体的生物学解释。这包括增加途径分析,以识别丰富的生物途径和分子过程。我们进一步扩展了用户可用于癌症测序数据分析的定向注释字段的范围。这些新添加项有助于研究输入数据集中的癌症驱动变异和可靶向的分子改变。新的用户定向过滤选项与交互式图形和可视化工具的添加相结合。这些改进简化了对大型测序数据集衍生的变体的分析,以识别数据中具有生物学和临床意义的子集。SNPnexus 是目前最全面的基于网络的应用程序,这一系列新的更新确保它仍然是研究人员的最先进工具。SNPnexus 可在 https://www.snp-nexus.org 免费获得。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a96/7319579/aa54842b795a/gkaa420fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a96/7319579/78631fa73bb9/gkaa420fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a96/7319579/8de7afbbb510/gkaa420fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a96/7319579/aa54842b795a/gkaa420fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a96/7319579/78631fa73bb9/gkaa420fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a96/7319579/8de7afbbb510/gkaa420fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4a96/7319579/aa54842b795a/gkaa420fig3.jpg

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