Clinical-grade pedigree analysis, finally in your browser
Evagene unifies pedigree drawing, clinical data modelling, Bayesian risk analysis, and AI-powered clinical interpretation in a single platform. Standard ISCN/HGNC notation. Integrated BayesMendel engine (BRCAPRO, MMRpro, PancPRO). A 180+ disease catalog with ICD-10 and OMIM codes. Blood type and trait inference from 23andMe SNP data. Zero installs.
Standard pedigree notation (ISCN/HGNC)
Per-individual consent-to-share flags
No installation required
BayesMendel R engine (peer-reviewed)•ICD-10 & OMIM coded•AI-powered clinical interpretation
evagene.net/pedigree/brca-family
180+ Diseases
6 Risk Models
The Problem
Existing pedigree tools cost clinicians time, not save it
Paper charts get lost in handover. General-purpose diagramming tools don't understand affection fill or proband arrows. Legacy genetics software forces you to re-key family data into a separate BayesMendel calculator — and none of it runs in a browser.
The result: consultation time wasted on tools rather than patients. Incompatible exports between research teams. Families locked out of their own history.
Evagene
Draw. Annotate. Analyse. Export. One tab.
Evagene combines gesture-based pedigree drawing, deep clinical data modelling, Bayesian risk analysis, and universal data exchange — in a single browser application with no installation.
Draw a circle for a female. A square for a male. Connect them. Add diseases with ICD-10 codes. Run BRCAPRO. Export to PDF. That is the entire workflow.
Pick up a stylus — or use your finger, mouse, or trackpad — and draw directly on the canvas. Circles, squares, diamonds, connecting lines. Exactly as you would with pencil and paper.
As you sketch, Evagene recognises each gesture in real time and builds a fully structured genetic model underneath: individuals, relationships, generations, and lineage — ready for annotation, risk analysis, and export.
No menus. No toolbars. No learning curve. If you can draw a pedigree on paper, you can draw one in Evagene.
Drawing a pedigree on iPad with Apple Pencil — gestures become structured data in real time
A complete pedigree platform, not another drawing tool
From gesture-based canvas drawing to Bayesian cancer risk models and GEDCOM interoperability — clinical-grade power in an interface anyone can learn in minutes.
Gesture Drawing
Freehand-draw circles, squares, and diamonds on the HTML5 canvas. Draw lines to form relationships. Natural as pen and paper, with keyboard accelerators.
Floating draggable panel: identity (8 biological sex options), death status (12 options), lifestyle, contact fields, consent-to-share flags, relationship events — all synced in real time.
180+ Disease Catalog
Oncology, cardiology, neurology, metabolic — each entry carries ICD-10, OMIM, inheritance pattern, penetrance tables, and carrier frequencies by ancestry. Manage your collection from a dedicated dashboard with presets and custom colours.
Bayesian Risk Models
BRCAPRO, MMRpro, PancPRO via the peer-reviewed BayesMendel engine. Plus autosomal dominant/recessive and X-linked Mendelian models with age-dependent penetrance.
Interactive Karyogram
Ideogram of all chromosomes with genetic markers at genomic positions, colour-coded by test result (positive / VUS / negative), with centromere bands.
Broad Data Exchange
Import JSON, GEDCOM 5.5.1, XEG, 23andMe, and images (OCR). Export to JSON, GEDCOM, PNG (up to 4x), SVG, and PDF (A4/A3/Letter/Legal).
Consanguinity & Kinship
Wright's path coefficient calculates consanguinity coefficients automatically. Values display on relationship lines and feed directly into risk models.
Advanced Search
Query builder: filter by sex, disease status, age, tests, treatments — across parents, siblings, ancestors, descendants. AND/OR modes. Results highlighted on canvas.
Batch Investigation
Screen a proband across multiple diseases simultaneously. Generate dual-audience reports: one written for the patient, one for the clinical geneticist.
Allergies & Traits
55+ allergies (severity, IgE, cross-reactivity). 50+ traits (heritability, marker associations) with automatic inference of blood type, Rh factor, and secretor status from 23andMe SNP data.
Generate AI-powered clinical reports covering key findings, family implications, data gaps, and screening recommendations — anchored directly to the proband on the canvas.
Blood Type & Trait Inference
Import 23andMe SNP data and Evagene automatically infers ABO blood type, Rh factor, and secretor status from genotype markers. Traits display as visual cards alongside the pedigree.
Disease Management Dashboard
Browse, search, and manage your disease collection from a dedicated dashboard. Quick-add presets (heritable cancers, cardiovascular), taxonomy views, custom colours, and ICD-10 filtering.
Pedigree Reports & Rich Text
Auto-generate structured English reports describing the proband and family findings. Rich markdown editor with formatting toolbar, live preview, and anchored canvas notes that follow individuals.
Purpose-built for every user who works with pedigrees
From specialist geneticists to patients documenting family history — Evagene adapts to your workflow and expertise level.
Replace paper charts and workarounds with a purpose-built system
Every symbol, fill pattern, and overlay follows standard clinical pedigree conventions — eliminating the ambiguity of hand-drawn charts and the limitations of diagramming tools.
Run BRCAPRO, MMRpro, PancPRO, and Mendelian risk models directly from the pedigree — no re-entering data
180+ diseases pre-configured with ICD-10, OMIM, inheritance patterns, penetrance data, and ancestry-specific carrier frequencies
Batch risk screening: screen a proband across all diseases with patient, clinical, carrier, and AI-generated reports
AI clinical interpretation: generate structured findings, family implications, and screening recommendations
Personalised hereditary cancer risk from the full family history
BRCAPRO (breast/ovarian), MMRpro (colorectal/endometrial), and PancPRO (pancreatic) deliver Bayesian risk estimates that account for both affected and unaffected relatives across multiple generations.
Record tumour laterality, site, ER/PR/HER2 status, grade, and stage per disease per individual
Track chemotherapy, surgery, and interventions with dose, route, frequency, and prophylactic flag
Manifestation timeline with dated progression, certainty levels, and clinical test references
Dual-audience reports: patient-facing summary and detailed clinical report for MDT
Capture structured family history in minutes, not hours
Draw a three-generation pedigree during a consultation using gestures or keyboard shortcuts. Run built-in risk models to identify patients who warrant specialist referral — without leaving the tool.
Structured data replaces free-text notes — searchable and reusable across visits
Built-in risk screening identifies patients who may benefit from genetic testing or specialist referral
In-app education guides written for GPs explain when pedigree findings warrant referral to genetics
Export pedigrees as PDF for referral letters or as JSON for seamless handover to genetics teams
From patient intake to cascade follow-up, streamlined
Patient-facing reports in plain language. Per-individual consent-to-share flags for GDPR/data governance. vCard-compatible contact fields for coordinating family follow-up across services.
Plain-language investigation summaries suitable for sharing with patients and families
Consent-to-share flag on each individual supports GDPR and data governance requirements
Clear proband marking with directional arrow and label ensures the index case is always identifiable
Role-specific guides covering workflows from patient intake through cascade follow-up
Research-grade Mendelian modelling and linkage analysis
Go beyond clinical risk. Evagene supports autosomal dominant/recessive and X-linked models with reduced penetrance, germline mosaicism, de novo rates, anticipation (trinucleotide repeat expansion), parent-of-origin bias, and locus heterogeneity.
Configurable Haldane and Kosambi map functions for recombination fraction analysis
Species flexibility: custom ploidy and chromosome sets for non-human pedigrees
55+ allergies and 50+ traits with inheritance patterns, heritability estimates, and marker associations for genotype-phenotype correlation
Your family's health story, beautifully documented
No genetics knowledge required. Draw shapes on a canvas to build your family tree. Import your 23andMe results. Export a PDF to bring to your next doctor's appointment or share with relatives.
Colour-coded disease sectors and clear symbols make the pedigree readable at a glance
Import 23andMe data: raw genotype, ancestry, traits, and health history — with automatic blood type, Rh factor, and secretor status inference from SNP markers
Photograph a paper pedigree and import via image analysis (OCR + shape detection)
Plain-language risk reports and beginner-friendly help guides — no medical degree required
GEDCOM-compatible, information-dense family trees
Import from and export to GEDCOM 5.5.1 for interoperability with Ancestry, FamilySearch, Gramps, and other genealogy software. Migrate legacy XEG files and 23andMe data exports seamlessly.
Rich family data per individual: names, dates, contact information, ancestries, and rich-text notes with markdown formatting
Auto-layout, generation numbering, and the family register make large multi-generation pedigrees manageable
Dizygotic and monozygotic twin notation with proper chevron symbols
Automatic consanguinity detection via Wright's path coefficient identifies complex relationships
Learn genetics by doing, with correct conventions enforced
200+ built-in guides covering introductory through advanced genetics, clinical genetics material, and disease-specific references. Students learn correct pedigree conventions by using a tool that enforces them from the first symbol.
Integrated BayesMendel risk analysis — no second tool needed
The BayesMendel R engine runs as a sidecar process. Select a proband, choose a model, click Run Analysis. Carrier probabilities and age-specific risk tables appear in the same panel — no copy-paste, no data re-entry.
BRCAPRO
Breast & Ovarian Cancer
BRCA1/BRCA2 carrier probability. Cumulative breast and ovarian cancer risk at ages 40, 50, 60, 70, 80.
Populations: General, Ashkenazi Jewish, Italian
Carrier ≥10% → clinically actionable
Carrier ≥25% → strongly suggestive
MMRpro
Lynch Syndrome
MLH1/MSH2/MSH6 carrier probability. Colorectal and endometrial cancer risk by age. ~3% of all CRC.
Supports Amsterdam II criteria context
Carrier ≥5% → consider IHC/MSI testing
PancPRO
Pancreatic Cancer
Pancreatic cancer susceptibility. FPC families face 5–30× general-population risk.
Genes: PALB2 and others
Lifetime risk >5% → consider EUS/MRI screening
See it in action: simulated BRCAPRO output
Select a family scenario below to see how carrier probabilities and risk change with family history.
Build integrations, connect AI agents, push data to external systems, and embed pedigree diagrams in your own applications. Evagene's platform layer turns pedigree intelligence into infrastructure.
API Keys
Long-lived, scoped, rate-limited keys for programmatic access to the full Evagene API. SHA-256 hashed at rest. Configurable per-minute and per-day limits.
Bring Your Own LLM
Supply your own Anthropic or OpenAI API key for AI analysis. Encrypted at rest with Fernet. No quota limits. Choose your provider and model.
Webhooks
Push HMAC-SHA256 signed notifications when pedigrees change. Connect to EHR systems, LIMS, Slack, or any endpoint that accepts HTTP POST.
Analysis Templates
Reusable custom AI prompt templates with variable injection. Design analyses for pharmacogenomics, reproductive risk, research data extraction, or patient-friendly summaries.
MCP Server
Let AI agents work with pedigrees via the Model Context Protocol. 11 tools for Claude Desktop, custom agents, or any MCP-compatible client. Direct database access, no HTTP overhead.
Embeddable Viewer
Drop-in pedigree diagrams for patient portals, research dashboards, or any website. Three embedding modes: iframe, raw SVG, or a JavaScript snippet.
Every disease name, genetic marker, and risk result in Evagene links directly to its guide. The help system doubles as a comprehensive genetics education resource.
180+
Disease-specific guides
8
Role-specific workflows
3
Genetics knowledge levels
6
Risk model explainers
Covers the central dogma (DNA → RNA → protein), chromosome structure, Mendelian inheritance patterns, and how mutations lead to disease. Written for readers with no prior genetics background. Includes diagrams of DNA replication, meiosis, and autosomal vs. X-linked inheritance.
BRCAPRO uses Bayesian updating with the BayesMendel R package to estimate BRCA1/BRCA2 carrier probability from family pedigree data. Supports General, Ashkenazi Jewish, and Italian population frequencies. Carrier probability ≥10% is considered clinically actionable; ≥25% is strongly suggestive of hereditary breast and ovarian cancer syndrome.
ICD-10: C50. OMIM: 114480. Inheritance: multifactorial with high-penetrance genes (BRCA1, BRCA2, TP53, PALB2). Lifetime risk ~12% general population; up to 72% for BRCA1 carriers. Evagene tracks laterality, ER/PR/HER2 status, grade, stage, and age at diagnosis per individual.
M/F/U to add individuals, P for partner, D for disease palette, N for notes, G for genetics panel. Ctrl+Z/Y for undo/redo, Ctrl+C/V for copy/paste, Ctrl+A to select all, F2 to edit name, Delete to remove. Space+drag to pan, scroll to zoom, Ctrl+G for snap-to-grid.
Alpha Access
Join the Alpha waiting list
Be among the first to use Evagene. Alpha members receive early access, direct input on the roadmap, and priority support from the development team.
You're on the list!
We'll notify you as soon as alpha access opens. In the meantime, share Evagene with colleagues who work with pedigrees.
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Alpha spots are limited
Join clinicians, researchers, and families already on the waiting list. Early members shape the roadmap and receive priority support.
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