GenomeAI

Open-source intelligence for the genome era.

GenomeAI is an open-source project building a modular, evidence-driven platform for genomics, bioinformatics, biomedical research, and AI-powered discovery. Designed for researchers, clinicians, and developers, the goal is a unified pipeline for genomic data ingestion, analysis, machine learning, and knowledge synthesis.

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Features

Feature	Status
Genomic pipeline engine (WGS, WES, RNA-seq, single-cell)	📋 Planned
AI/ML framework (variant effect prediction, regulatory genomics)	📋 Planned
Biomedical knowledge graph (ClinVar, GWAS Catalog, PDB, UniProt)	📋 Planned
Plugin architecture with SDK	📋 Planned
Reproducible workflow execution (DAG-based)	📋 Planned
Privacy and access control (ABAC, differential privacy)	📋 Planned
CLI, REST API, and Python SDK	📋 Planned

GenomeAI is under active development. Core infrastructure and the Genome, Sample, Gene, Variant, and Transcript domains have been implemented. Additional biological domains and analysis pipelines are in progress. Contributions and design feedback are welcome.

Architecture Overview

┌──────────────────────────────────────────────────────┐
│                    API Gateway                        │
├────────────┬───────────┬──────────┬──────────────────┤
│  Ingestion │  Analysis  │   ML     │   Knowledge      │
│  Pipeline  │  Pipeline  │  Serving │   Graph           │
├────────────┴───────────┴──────────┴──────────────────┤
│                  Plugin System                        │
├──────────────────────────────────────────────────────┤
│        Storage Layer (Object Store + RDBMS + Vector) │
└──────────────────────────────────────────────────────┘

See ARCHITECTURE.md for a detailed breakdown.

Getting Started

# Clone the repository
git clone https://github.com/dsk-dev-ai/GenomeAI.git
cd GenomeAI

# Install all dependencies and start infrastructure services
make setup

See docs/development/ for detailed setup instructions, prerequisites, and workflow guides.

Documentation

Topic	Location
Architecture	ARCHITECTURE.md
API Reference	docs/api/
Database Schema	docs/database/
AI/ML Guide	docs/ai/
Plugin Development	docs/plugins/
Deployment	docs/deployment/
Contributing	CONTRIBUTING.md

License

GenomeAI is open source under the Apache 2.0 License.

Community

• GitHub Discussions — Questions, ideas, and show-and-tell.
• Issue Tracker — Bug reports and feature requests.
• Code of Conduct — We value inclusive and respectful collaboration.