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R Shiny app for somatic genomic variants interpretation. The tool suite to deal with the underlying local structured database is provided here : https://github.com/clbenoit/SomaVarDBTools

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📋 Requirements

R 4.2.0

🛠️ Installation

git clone [email protected]:clbenoit/SomaVarDB.git

⚙️ Configuration

Edit the config file

  • cache_directory : directory to store SomaVarDB cache files in. Necessary for good app performances. If NULL, a temporary directory will be used and cache will be lost on computer restart
  • multiqc : Path where multiqc run reports are stored. Will be soon compatible with Apache server URL
  • db_path : Path where you genomic variation database is stored
  • prefix : Name of you Genomic variation stuctured database
  • use_browser : Do you want to activate genome browser functionnality to visualize bam files ? (TRUE|FALSE)
  • [Optional] browser_server_path : In the case of a local JBrowseR installation, not intended for production use
  • [Optional] browser_client_url: Url to your JBrowseR server, files should be accessible from the WebBrowser used to access the Shiny app

For example prefix = "lung_variations" db_path = "/home/my_databases/" Will set up SomaVarDB to use the following SQLite database : /home/my_databases/lung_variations.db

🚀 Run the application

Go to the app root directory and run

Sys.setenv(MY_VARIABLE = "default"); shiny::runApp()

Demo app

💻 Run demo locally

Go to the app root directory and run

Sys.setenv(MY_VARIABLE = "demo"); shiny::runApp() Skip references download and disable genome browser on demo app

Sys.setenv(MY_VARIABLE = "demo_browser"); shiny::runApp() Will download genome reference file on first call before to start the app

🌐 Live demo App

See live demo

🧬 Manage your genomic variations database

See https://github.com/clbenoit/SomaVarDBTools

🔜 Incoming features

  • Possibility for the user to save filters and parameters presets and choose a default one
  • Add in silico panel lists usable as filtering option
  • Possibility for the user to upload a list of preferential transcripts, default use the canonical one in sample variants table -> cleaner view

⚠️ Troubleshouting

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R Shiny app for somatic genomic variants interpretation. The tool suite to deal with the underlying local structured database is provided here : https://github.com/clbenoit/SomaVarDBTools

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