Skip to content

NC-Scorer is a tool designed to standardize and automate the assessment of candidate gene variants identified through genetic sequencing for Chronic Kidney Disease (CKDu) research. Utilizing the Nephro Candidate Score (NCS), it accelerates the discovery of genetic associations in CKD.

License

Notifications You must be signed in to change notification settings

halbritter-lab/nc-scorer

Repository files navigation

NC-Scorer

Overview

NCScorer is a tool developed to standardize and automate the assessment of candidate variants in Exome Sequencing (ES) for patients with Chronic Kidney Disease of unknown etiology (CKDu). The tool leverages a scoring system called the Nephro Candidate Score (NCS) to prioritize candidate variants for further investigation, accelerating the discovery of new genetic associations in CKD.

This application is part of a broader research initiative that aims to apply the NCS to large CKD cohorts, such as the GCKD, to identify novel CKD-related genes and understand the genetic underpinnings of this complex disease.

Installation

To set up the NCScorer for development or deployment, follow these steps:

  1. Ensure that you have Node.js and npm installed on your machine.

  2. Clone the repository:

    git clone https://github.com/halbritter-lab/nc-scorer.git
    cd nc-scorer
  3. Install the dependencies:

    npm install
  4. To run the application locally:

    npm run serve
  5. To build the application for production:

    npm run build

Usage

After starting the application, navigate to http://localhost:8080 (or the configured port) in your web browser to begin using NCScorer. The interface allows users to search and score genetic variants based on predefined criteria.

Contributing

Contributions to NCScorer are welcome! Please read our Contributing Guidelines for more information on how to report bugs, make feature requests, and submit pull requests.

Code of Conduct

To ensure a welcoming and supportive environment for all contributors, please review and adhere to our Code of Conduct.

License

NCScorer is made available under the MIT License. See the LICENSE file for more information.

About

NC-Scorer is a tool designed to standardize and automate the assessment of candidate gene variants identified through genetic sequencing for Chronic Kidney Disease (CKDu) research. Utilizing the Nephro Candidate Score (NCS), it accelerates the discovery of genetic associations in CKD.

Topics

Resources

License

Stars

Watchers

Forks

Releases

No releases published

Packages

No packages published