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.
To set up the NCScorer for development or deployment, follow these steps:
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Ensure that you have Node.js and npm installed on your machine.
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Clone the repository:
git clone https://github.com/halbritter-lab/nc-scorer.git cd nc-scorer -
Install the dependencies:
npm install
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To run the application locally:
npm run serve
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To build the application for production:
npm run build
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.
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.
To ensure a welcoming and supportive environment for all contributors, please review and adhere to our Code of Conduct.
NCScorer is made available under the MIT License. See the LICENSE file for more information.