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Treffer: SnpXplorer: A web application to explore human SNP-associations and annotate SNP-sets

Title:
SnpXplorer: A web application to explore human SNP-associations and annotate SNP-sets
Publisher Information:
2021
Document Type:
E-Ressource Electronic Resource
Index Terms:
DOI:
10.1093.nar.gkab410
Availability:
Open access content. Open access content
© 2021 N. Tesi, S.J. van der Lee, M. Hulsman, H. Holstege, M.J.T. Reinders
Note:
English
Other Numbers:
NLTUD oai:tudelft.nl:uuid:299fdcc4-1ab9-4a14-94e4-17527cc9fc1d
doi:10.1093/nar/gkab410
1267689666
Contributing Source:
DELFT UNIV OF TECHNOL
From OAIster®, provided by the OCLC Cooperative.
Accession Number:
edsoai.on1267689666
Database:
OAIster

Weitere Informationen

Genetic association studies are frequently used to study the genetic basis of numerous human phenotypes. However, the rapid interrogation of how well a certain genomic region associates across traits as well as the interpretation of genetic associations is often complex and requires the integration of multiple sources of annotation, which involves advanced bioinformatic skills. We developed snpXplorer, an easy-to-use web-server application for exploring Single Nucleotide Polymorphisms (SNP) association statistics and to functionally annotate sets of SNPs. snpXplorer can superimpose association statistics from multiple studies, and displays regional information including SNP associations, structural variations, recombination rates, eQTL, linkage disequilibrium patterns, genes and gene-expressions per tissue. By overlaying multiple GWAS studies, snpXplorer can be used to compare levels of association across different traits, which may help the interpretation of variant consequences. Given a list of SNPs, snpXplorer can also be used to perform variant-to-gene mapping and gene-set enrichment analysis to identify molecular pathways that are overrepresented in the list of input SNPs. snpXplorer is freely available at https://snpxplorer.net. Source code, documentation, example files and tutorial videos are available within the Help section of snpXplorer and at https://github.com/TesiNicco/snpXplorer.
Pattern Recognition and Bioinformatics
Intelligent Systems