# Evagene

> Clinical-grade pedigree management for precision medicine

Evagene is a web-based pedigree management system for clinical genetics, oncology, research, and family history. It combines an intuitive canvas editor with deep clinical data modelling, genetic risk analysis, and interoperability with genealogy and genomics formats.

## Key Facts

- Website: https://evagene.com
- Application: https://evagene.net
- Status: Alpha (free access via waiting list)
- Type: Web application (browser-based, no installation required)
- Category: Health / Clinical Genetics / Precision Medicine

## What Evagene Does

- Draw family pedigrees using standard clinical genetic notation (ISCN/HGNC) on an HTML5 canvas with gesture drawing or keyboard shortcuts
- Annotate individuals with diseases, genetic tests, clinical tests, treatments, allergies, traits, and ancestry
- Run integrated Bayesian cancer risk models: BRCAPRO (breast/ovarian), MMRpro (Lynch syndrome), PancPRO (pancreatic)
- Run Mendelian inheritance risk models: autosomal dominant, autosomal recessive, X-linked recessive
- AI-powered clinical interpretation: generate structured reports covering key findings, family implications, data gaps, and screening recommendations
- Auto-generate pedigree description reports in structured English
- Catalogue of 180+ genetic diseases with ICD-10 codes, OMIM IDs, and inheritance parameters
- Disease management dashboard with search, taxonomy views, presets, and custom colours
- 55+ allergies and 50+ traits with genetic marker associations
- Blood type (ABO, Rh) and secretor status inference from 23andMe SNP markers
- Interactive karyogram viewer with hover tooltips, click-to-pin info panels, and canvas embedding
- Consanguinity detection with Wright's coefficient calculation
- Ancestry management with auto-calculation
- Advanced search and filtering across pedigree data
- Import: JSON, GEDCOM 5.5.1, 23andMe (genotype, traits, health history), XEG (legacy), pedigree images (OCR)
- Export: JSON, GEDCOM, PNG, SVG, PDF
- Batch risk screening: screen a proband across all diseases simultaneously with configurable thresholds
- Four report types: patient-friendly, clinical, carrier probability, and AI-generated interpretation
- Anchored canvas notes that follow individuals when moved
- Rich text editing with markdown formatting and live preview
- Pedigree duplication and improved twin/pregnancy management

## Who It's For

- Clinical geneticists
- Oncologists
- General practice doctors
- Genetic nurses and counsellors
- Research geneticists
- Patients and families
- Genealogists
- Educators and students

## Help & Documentation

Comprehensive documentation is available at https://evagene.net/help covering:
- Introductory, intermediate, and advanced genetics guides
- Role-specific workflow guides for 8 professional groups
- 180+ individual disease guides
- Risk model documentation (BRCAPRO, MMRpro, PancPRO, Mendelian models)
- Disease, allergy, trait, clinical test, and intervention catalogues
- Keyboard shortcut reference

## Platform & Integrations

Evagene includes a platform layer for programmatic access and third-party integration:

- REST API with scoped, rate-limited API keys (format: evg_<43 chars>, SHA-256 hashed at rest, read/write/analyse scopes)
- Bring Your Own Key (BYOK) LLM support for Anthropic (Claude) and OpenAI (GPT), encrypted at rest with Fernet
- Webhooks with HMAC-SHA256 signed payloads for 8 event types (pedigree/individual CRUD, analysis completed, import completed)
- Analysis Templates: reusable custom AI prompt templates with variable injection ({{pedigree_description}}, {{proband_name}}, etc.)
- MCP Server: 11 pedigree tools via the Model Context Protocol for Claude Desktop, Claude Code, and other AI agents
- Embeddable Pedigree Viewer: iframe, raw SVG, or JavaScript snippet for patient portals, research dashboards, and EHR integration

Full platform documentation: https://evagene.net/help/platform_overview

## Topic Guides

- [Pedigree Drawing Software](https://evagene.com/pedigree-drawing-software.html) — Complete guide to pedigree drawing, standard notation, and pedigree software comparison
- [Hereditary Cancer Risk Assessment](https://evagene.com/hereditary-cancer-risk-assessment.html) — BRCAPRO, MMRpro, PancPRO, and Bayesian cancer risk modelling
- [GEDCOM & Genealogy](https://evagene.com/gedcom-pedigree-software.html) — GEDCOM import/export, 23andMe integration, and genealogy interoperability
- [Clinical Genetics Pedigree Tool](https://evagene.com/clinical-genetics-pedigree-tool.html) — Pedigree software for clinical geneticists and genetic counsellors
- [Mendelian Inheritance Calculator](https://evagene.com/mendelian-inheritance-calculator.html) — Autosomal dominant, autosomal recessive, and X-linked inheritance models
- [Platform & Integrations](https://evagene.com/platform.html) — API keys, BYOK LLM, webhooks, analysis templates, MCP server, embeddable viewer

## Optional

- [Full documentation](https://evagene.com/llms-full.txt)