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Bioinformatics ; 35(17): 3154-3156, 2019 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-30689722

RESUMO

SUMMARY: 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 INFORMATION: Supplementary data are available at Bioinformatics online.


Assuntos
Estudo de Associação Genômica Ampla , Software , Bases de Dados Factuais , Humanos , Anotação de Sequência Molecular , Polimorfismo de Nucleotídeo Único
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