Varanto: variant enrichment analysis and annotation
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CitationTimonen, O. Särkkä, M. Fülöp, T. Mattsson, A. Kekäläinen, J. Paananen, J. (2019). Varanto: variant enrichment analysis and annotation. Bioinformatics, 35 (17) , 3154-3156. 10.1093/bioinformatics/btz046.
Genome-wide association studies (GWAS) aim to identify associations of genetic variations such as single-nucleotide polymorphisms (SNPs) to a specific trait or a disease. Identifying common themes such as pathways, biological processes and diseases associations is needed to further explore and interpret these results. Varanto is a novel web tool for annotating, visualizing and analyzing human genetic variations using diverse data sources. Varanto can be used to query a set of input variations, retrieve their associated variation and gene level annotations, perform annotation enrichment analysis and visualize the results.
Availability and implementation
Varanto web app is developed with R and implemented as Shiny app with PostgreSQL database and is freely available at http://bioinformatics.uef.fi/varanto. Source code for the tool is available at https://github.com/oqe/varanto.
Supplementary data are available at Bioinformatics online.