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 Nephro Candidate Score (NCS) combines gene, variant, and inheritance evidence to prioritize candidate variants for further investigation.

Key Features

• Automated Scoring: Uses the NCS algorithm to assess genetic variants
• Batch Processing: Score up to 200 variants in one run
• Evidence Review: Inspect gene scores, variant annotations, and transcript details
• API Integration: Fetches data from Ensembl and other genomic databases
• Export Options: CSV and Excel for individual assessments; CSV, TSV, and JSON for batch results

Quick Start

1. Visit the NC-Scorer application
2. Choose Score a variant, Variant details, or Find a gene
3. For a combined score, select the assembly and inheritance pattern, then review the scores and annotations
4. Export results for further analysis

See Usage for the complete workflow and Batch Processing for lists of variants. For local development, see the Installation guide.