# Changelog All notable changes to VariantCentrifuge will be documented in this file. The format is based on [Keep a Changelog](https://keepachangelog.com/en/1.0.0/), and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0.html). ## [Unreleased] ### Added - Comprehensive Sphinx documentation with modern Furo theme - GitHub Actions workflow for automated documentation deployment - API reference documentation with autodoc - User guides for installation, usage, and configuration - Development and contributing guides - Annotation strategy guides for VCF preprocessing - Unified annotation system supporting BED files, gene lists, and JSON gene data - JSON gene annotation feature with flexible field mapping (`--annotate-json-genes` and `--json-gene-mapping`) - Custom annotation integration in the pipeline workflow - **bcftools pre-filtering** (`--bcftools-prefilter`) for early variant filtering during extraction, significantly improving performance on large VCFs - **Final filtering** (`--final-filter`) using pandas query syntax, allowing filtering on any column including computed scores and inheritance patterns - Comprehensive test suite for new filtering features ### Changed - Documentation migrated from README to structured Sphinx documentation - Improved configuration documentation with preset examples - Enhanced filtering capabilities with three-stage filtering approach (bcftools pre-filter, SnpSift filter, final filter) ### Fixed - Documentation structure and navigation - Numeric type conversion in final filtering to handle mixed data types correctly ## [0.5.0] - 2024-XX-XX ### Added - Interactive HTML report generation with sortable tables - IGV.js integration for genomic visualization - Cohort analysis and reporting functionality - Gene burden analysis with Fisher's exact test - Phenotype data integration and filtering - Preset filter system for common analysis workflows - Excel output format support - External database links (SpliceAI, Franklin, Varsome, gnomAD, ClinVar) ### Changed - Improved command-line interface with better argument organization - Enhanced configuration system with JSON-based presets - Optimized variant filtering pipeline - Better error handling and user feedback ### Fixed - VCF header normalization for indexed fields - Sample identification in cohort reports - IGV report generation with proper FASTA handling ## [0.4.0] - 2024-XX-XX ### Added - Comprehensive test suite with pytest - Pre-commit hooks for code quality - Gene list annotation functionality - Variant statistics and metadata generation ### Changed - Modular code architecture with clear separation of concerns - Improved logging and debugging capabilities - Enhanced VCF processing pipeline ### Fixed - Gene BED file generation edge cases - Genotype replacement functionality ## [0.3.0] - 2024-XX-XX ### Added - Gene-centric variant filtering - SnpSift integration for field extraction - Basic HTML report generation - Phenotype integration capabilities ### Changed - Migrated from Bash/R to Python-based pipeline - Improved error handling and validation ## [0.2.0] - 2024-XX-XX ### Added - Initial Python CLI implementation - VCF processing with bcftools integration - Basic filtering capabilities - Configuration file support ### Changed - Complete rewrite from shell scripts to Python ## [0.1.0] - 2024-XX-XX ### Added - Initial release - Basic variant filtering functionality - Shell script-based pipeline - Simple output generation --- ## Legend - **Added** for new features - **Changed** for changes in existing functionality - **Deprecated** for soon-to-be removed features - **Removed** for now removed features - **Fixed** for any bug fixes - **Security** for vulnerability fixes