Pedigree drawing tool: in-browser pedigree software with NSGC notation
A pedigree drawing tool is software that draws family pedigrees using a defined notation set, enforces the symbol conventions automatically, and exports the structured pedigree in standards-grade formats. This page is about Evagene as an in-browser pedigree drawing tool: what it draws, how it draws, what it exports, and how it compares with the major free and paid alternatives. Free during alpha for clinicians, researchers, educators, and students.
Short version. Evagene is a browser-based pedigree drawing tool. It draws NSGC-compliant pedigrees by gesture, captures three or more generations efficiently, supports consanguinity loops and pregnancy outcomes, exports GEDCOM / PED / Phenopackets / CanRisk / PDF / PNG / SVG, and runs twenty published risk-model algorithms directly on the pedigree. There is no install, no plugin, no enterprise sales cycle. For research, education, and family-history documentation; not a medical device.
What a pedigree drawing tool does
A pedigree drawing tool is purpose-built for one job: to render a family's biological structure and disease history correctly, in NSGC-standard notation, fast enough to keep up with the conversational pace of family-history collection. That sounds simple but the implementation is not. The tool has to encode sex assigned at birth (square / circle / diamond), gender identity where it differs and is recorded, affected status (filled / quadrant fills for multiple conditions), deceased status (diagonal line, with cause and age annotations), proband (arrow), partner (horizontal line) versus consanguineous union (double horizontal line), descent (vertical line from partner line to sibship), sibship (horizontal connector with siblings in birth order), monozygotic versus dizygotic twins, pregnancy outcomes (triangles for miscarriage / termination, with gestational age), adoption (brackets), and carrier status (central dot or half-fill). And it has to keep this rendering visually correct as the family grows past five, ten, fifty individuals.
Generic diagram tools (Visio, Lucidchart, draw.io, SmartDraw) draw shapes; they do not enforce the structural relationships that distinguish a pedigree from a flowchart. Genealogy tools (Ancestry, MyHeritage, FamilySearch) record lineage but not affected status. Spreadsheets capture rows of data but not the diagram. A pedigree drawing tool sits in the gap.
How Evagene draws
Evagene draws by gesture. Rather than dragging shapes from a palette, the user makes intuitive movements that the tool resolves into the correct NSGC symbols and structural connectors. Adding a partner, a child, a sibling, a deceased relative, a pregnancy outcome — each is a small consistent gesture. The flow is designed to be uninterrupted while the user takes a family history, teaches an introductory genetics class, or works through a research dataset. A traditional dropdown / form mode is also available for users who prefer keyboard-driven entry, and pedigree OCR reconstructs a structured pedigree from a hand-drawn or scanned image when the starting point is on paper.
The tool enforces NSGC notation by default; there is no option to render non-standard symbols. Layout is automatic: as the family grows, generations stay aligned, sibships stay ordered, and consanguinity loops route correctly. The output is consistently interpretable across users and institutions because the tool itself is the consistency mechanism.
What Evagene exports
A pedigree drawing tool's value is partly in what it draws and partly in what it produces as portable, vendor-neutral output. Evagene exports:
- GEDCOM 5.5.1 — the de facto family-structure interchange format, supported in both directions. See GEDCOM pedigree software.
- PED — the linkage / population-genetics format used by many research pipelines.
- Phenopackets v2 — GA4GH-standard phenotype-aware exchange. See phenopackets and pedigree data.
- HL7 FHIR FamilyMemberHistory — for downstream consumption by systems that choose to receive structured family-history data. See HL7 FHIR and pedigree data.
- CanRisk 2.0 — the bridge to clinical-grade BOADICEA computation at canrisk.org.
- PDF, PNG, SVG — printable artefacts for slides, teaching materials, research notes, and personal documentation.
- 23andMe import — a structured starting point for trait and ancestry context. See 23andMe pedigree import.
- Pedigree OCR — reconstructs structured pedigrees from hand-drawn or scanned images. See pedigree OCR.
Risk-model implementations on the pedigree
Where a pedigree drawing tool only draws, the user has to re-enter the family history into a separate calculator to compute carrier probability or family-history-based risk. Evagene includes implementations of twenty published risk-model algorithms that run directly on the pedigree, eliminating re-entry and the transcription errors it produces. Outputs are illustrative and intended for research, teaching, and family-history documentation.
- BayesMendel BRCAPRO, MMRpro, PancPRO — carrier-probability and cancer-risk computations.
- Tyrer-Cuzick (IBIS-style approximation) — an in-tool approximation of the published Tyrer / Duffy / Cuzick 2004 algorithm. The official IBIS Breast Cancer Risk Evaluator binary is the authoritative implementation.
- Mendelian inheritance — autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive, Y-linked, mitochondrial.
- Family-history scoring — Manchester scoring, Amsterdam II criteria, revised Bethesda guidelines, NICE CG164 / NG101 illustrative thresholds, Claus 1994, Couch 1997, Frank 2002, Evans 2004, Vasen 1999, Umar 2004, Gail 1989.
- BOADICEA via CanRisk export — off-platform at canrisk.org. BOADICEA is licensed by the University of Cambridge and is not bundled.
Detailed model-by-model descriptions are in hereditary cancer risk assessment and mendelian inheritance calculator.
In-browser deployment
Evagene runs entirely in the browser. There is no installer, no plugin, no client software, no enterprise procurement cycle. The tool works in Chromium-based browsers (Chrome, Edge, Brave, Arc), Firefox, and Safari. Pedigrees are processed client-side; family-history data does not leave the user's device during alpha unless they explicitly export it. For institutions evaluating residency, that is the simplest possible answer to consent and data-protection questions.
Browser-based deployment also means the tool reaches users who would not otherwise have a pedigree-drawing option: trainees on rotation, visiting researchers, students at any institution, clinicians in services that have not procured a desktop pedigree platform. Friction is the enemy of adoption; removing it is part of the design.
Comparison with other pedigree drawing tools
The pedigree-drawing-tool market includes several established platforms. A brief positioning summary:
- Progeny — established enterprise platform with EHR-integrated workflows. Widely deployed in hospital genetics services. Procurement-heavy.
- PhenoTips — phenotyping-first platform anchored on HPO. Strong for diagnostic genetics and rare-disease research.
- TrakGene — cloud-based platform with HL7 FHIR support; manages testing workflows.
- FamGenix — patient-facing family-history intake with automatic pedigree generation.
- QuickPed — research-focused, with the underlying R package pedsuite for kinship analytics.
- DrawPed — free CC BY-SA 4.0 web tool, simple, PED-format output.
- GenoPro — desktop, genealogy-leaning with some clinical-pedigree support.
- CanRisk — not a competitor in the drawing sense but the canonical platform for BOADICEA computation. Evagene's CanRisk export is the bridge.
- Generic diagram software (SmartDraw, draw.io, Lucidchart, Visio, Creately, Visual Paradigm) — not recommended for clinical or research pedigree drawing because they do not enforce notation. SmartDraw, Creately, Visual Paradigm, and Edraw comparisons are available.
The full 2026 pedigree software roundup covers ten tools in detail. The free pedigree makers page focuses on the free options.
Choosing a pedigree drawing tool
For most users the choice comes down to a small number of questions:
- Is the tool free for my use case? Evagene, QuickPed, and DrawPed are free; FamGenix has a free patient-facing tier; Progeny / TrakGene are paid enterprise products.
- Does it enforce NSGC notation? Evagene, Progeny, TrakGene, PhenoTips, and FamGenix do; generic diagram software does not.
- Does it run risk-model algorithms? Evagene runs twenty; Progeny, TrakGene, PhenoTips, and FamGenix run subsets; QuickPed focuses on kinship rather than family-history risk; canrisk.org runs BOADICEA off-platform.
- Does it import / export GEDCOM? Evagene, GenoPro, and most clinical platforms do.
- Does it bridge to BOADICEA? Evagene exports CanRisk for canrisk.org. CanRisk itself runs the computation directly.
- Does it have a sensible answer to data residency? Browser-based tools that process data client-side (Evagene during alpha) are the simplest answer; cloud-stored alternatives need diligence on data-protection terms.
Pedigree drawing tool for teaching
Evagene works well in an introductory genetics teaching context: students can practice the symbol set against worked examples, draw their own pedigrees from family-history scenarios, and explore inheritance patterns in real time. The browser deployment removes the institutional licence question that often blocks adoption of pedigree software in undergraduate teaching. The educators and students page covers teaching-specific guidance.
Pedigree drawing tool for research
For research use, Evagene's PED export, Phenopackets v2 export, scriptable REST API, and MCP server are the relevant features. Researchers using R / Python pipelines can drive Evagene programmatically and consume the output in the format their downstream tooling expects. The research pedigree software page covers this in more depth.
Pedigree drawing tool for clinical genetics
For clinical-genetics use, the relevant features are NSGC notation, three-generation capture, BayesMendel risk-model implementations, the CanRisk bridge, and standards-grade export. The clinical pedigree drawing and clinical genetics pedigree tool pages cover the clinical view in detail. Evagene is positioned as a research- and education-focused tool that supports clinicians in the documentation and educational parts of their workflow; clinical-grade BOADICEA computation is routed off-platform to canrisk.org.
Frequently asked questions
What is a pedigree drawing tool?
Software that draws family pedigrees in NSGC-standard notation, enforces the symbol conventions, and exports the structured pedigree in standards-grade formats.
Is Evagene a free pedigree drawing tool?
Yes — free during alpha for clinicians, researchers, educators, and students.
Does Evagene need installation?
No. It runs entirely in the browser.
Which file formats does it support?
GEDCOM 5.5.1, PED, Phenopackets v2, HL7 FHIR FamilyMemberHistory, CanRisk 2.0, PDF, PNG, SVG. Plus 23andMe import and pedigree OCR.
Does it run risk-model algorithms?
Yes — twenty published algorithms in total. BOADICEA is computed off-platform at canrisk.org via the CanRisk export bridge.
Is Evagene a medical device?
No. Evagene is an academic, research, and educational pedigree modelling platform.