Getting Started

NC-Scorer 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).

Overview

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.

Key Features

• Automated Scoring: Uses the NCS algorithm to assess genetic variants
• Batch Processing: Analyze multiple variants simultaneously
• Modern Architecture: Built with Vue 3, Vuetify 3, and Vite
• API Integration: Fetches data from Ensembl and other genomic databases
• Export Options: Multiple formats including CSV, TSV, JSON, and VCF

Quick Start

1. Visit the NC-Scorer application
2. Search for a gene or variant using the search interface
3. Review the calculated scores and annotations
4. Export results for further analysis

For local development, see the Installation guide.