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Human Regulatory Mutation Database Curation Tool (HRMDBQ)

HRMDBQ is an Tauri/Angular desktop application specifically designed to streamline the annotation of non-coding Mendelian regulatory variants.

Predicting the consequences of mutations and distinguishing deleterious from neutral mutations in coding sequences are relatively straightforward thanks to the genetic code. The goal of the HRMD project is to comprehensively curate the medical literature for Mendelian disease-causing non-coding variants as a foundation for analysis and classification tools.

Installation

HRMDBQ is available as prepackaged installers for macOS, Windows, and Linux.

Latest Release

Always download the most recent version from the GitHub Releases page.

Installing on macOS

File to download: hrmdbq_<version>_aarch64.dmg
This is the macOS installer for Apple Silicon (M1/M2/M3/M4 Macs)

  1. Download the .dmg file from the Releases page
  2. Open the DMG and drag the app into your Applications folder
  3. When you try to open it, macOS will show the message:
    "'hrmdbq' is an app downloaded from the Internet. Are you sure you want to open it?"

If you confirm, the app will be installed into your Applications folder and started. From now one you can open hrmdbq like any other application (e.g., using the Spotlight searchbar).

Installing on Windows

File to download: hrmdbq_<version>_x64_en-US.msi
(Standard Windows MSI)

  1. Download: Get the .msi installer from the Releases page.
  2. Run: Double-click to start the installer.
  3. SmartScreen: If Windows shows a blue dialog saying "Windows protected your PC":
    • Click "More info".
    • Click "Run anyway".

Note

Windows shows this for unsigned apps from new developers. Once you install and run it, the warning will not reappear.

Installing on Linux (Debian/Ubuntu)

File to download: hrmdbq_<version>_amd64.deb
(Recommended for Ubuntu/Debian flavors)

  1. Download: Get the .deb package from the Releases page.
  2. Install: Run one of the following commands in your terminal:
Using apt (Recommended)
sudo apt install ./hrmdbq_<version>_amd64.deb
Using dpkg
sudo dpkg -i hrmdbq_<version>_amd64.deb