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Welcome to Custom Panel!

A modern Python tool for gene panel curation and aggregation from multiple genomic databases.

Overview

Custom Panel is a comprehensive bioinformatics tool for creating, managing, and curating gene panels for clinical genomics applications. It aggregates gene information from multiple trusted sources, applies a configurable scoring system, and generates standardized, analysis-ready output formats.

Key Features

  • Multi-source data aggregation: Integrates data from PanelApp, ACMG recommendations, in-house panels, manual curation lists, ClinGen, TheGenCC, COSMIC, and HPO/OMIM
  • Intelligent scoring system: Configurable evidence weighting with veto capabilities for critical sources
  • Gene standardization: Automatic gene symbol standardization using HGNC
  • Genomic annotation: Rich annotation with Ensembl coordinates, transcripts, and MANE information
  • Flexible output formats: Excel, CSV, Parquet, and BED file generation
  • Modern architecture: Built with Python 3.10+, Poetry, and comprehensive type hints

Getting Started

New to Custom Panel? Start here:

Data Sources

Learn how to configure and use different data sources:

API Reference

For developers and advanced users:

Scientific Background

Custom Panel implements a weighted evidence aggregation system that:

  1. Source Integration: Standardizes data from multiple sources to a common schema
  2. Gene Standardization: Validates and standardizes gene symbols using HGNC
  3. Evidence Scoring: Applies source-specific weights based on clinical reliability
  4. Decision Logic: Uses configurable thresholds with veto capabilities for critical sources
  5. Genomic Annotation: Enriches data with current coordinates and transcript information

Support