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

被引:84
作者
Oscanoa, Jorge [1 ]
Sivapalan, Lavanya [1 ]
Gadaleta, Emanuela [1 ]
Ullah, Abu Z. Dayem [1 ]
Lemoine, Nicholas R. [1 ]
Chelala, Claude [1 ]
机构
[1] Queen Mary Univ London, Ctr Canc Biomarkers & Biotherapeut, Barts Canc Inst, London EC1M 6BQ, England
关键词
INHIBITORS; VARIANTS; DATABASE; TUMORS;
D O I
10.1093/nar/gkaa420
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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.
引用
收藏
页码:W185 / W192
页数:8
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