VCFshiny: an R/Shiny application for interactively analyzing and visualizing genetic variants.

ABSTRACT:

Summary

Next-generation sequencing generates variants that are typically documented in variant call format (VCF) files. However, comprehensively examining variant information from VCF files can pose a significant challenge for researchers lacking bioinformatics and programming expertise. To address this issue, we introduce VCFshiny, an R package that features a user-friendly web interface enabling interactive annotation, interpretation, and visualization of variant information stored in VCF files. VCFshiny offers two annotation methods, Annovar and VariantAnnotation, to add annotations such as genes or functional impact. Annotated VCF files are deemed acceptable inputs for the purpose of summarizing and visualizing variant information. This includes the total number of variants, ov

SUBMITTER: Chen T 

PROVIDER: S-EPMC10493178 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature