DeDNA Genome Copilot

AI-interactive genomic visualization + variant risk screening
24 nodes

dedna-genome-copilot-61049385056.us-west1.run.app/

DeDNA Genome Copilot

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Privacy-first genome copilot on Google Cloud Run: VCF/23andMe upload UX, interactive linear genome browser, grounded Gemini chat with AI→genome navigation chips, 5-tier variant screening, and research-grade disclaimers. Current build is a Vite/React SPA with in-memory variant state and simulated upload processing — async VCF pipeline and igv.js integration are documented in the product roadmap.

Project context05

Problem

Personal genomics tools can be opaque: users upload complex files and receive static reports with limited interaction. A useful genome copilot needs to connect chat answers directly to genome navigation while maintaining privacy and research-grade disclaimers.

Solution

DeDNA provides a privacy-first genome copilot with upload UX, variant panels, a linear genome browser, grounded Gemini chat, and AI-to-genome navigation chips so explanations can point users to concrete loci and variants.

Challenges

The product must avoid medical overclaiming, keep genomic state understandable, support future VCF and igv.js pipelines, and make chat grounding visible enough that users can inspect what the assistant is referencing.

Innovation

The interface turns the assistant into a navigation layer over genomic data rather than a detached chatbot. Structured navigation contracts let AI responses move the user to relevant genome regions and variant records.

Domain expertise

This shows Stefan's range across genomics UX, grounded AI chat, privacy-aware data handling, React/Vite product execution, Google Gemini integration, and responsible bioinformatics communication.

Case study evidence11

Outcomes

  • Makes personal genomics more explorable by connecting assistant explanations to concrete loci, genes, and variant panels.
  • Keeps uncertainty and non-medical positioning explicit while still giving users useful research navigation.
  • Shows how a consumer-facing bio-AI assistant can feel useful without pretending to replace clinical interpretation.

Architecture decisions

  • A shared navigation contract synchronizes chat chips, browser focus, and finding details.
  • Separate Gemini modes distinguish literature-grounded search from uploaded-variant analysis.
  • The workspace preserves genome-browser context so chat answers never become detached from evidence.

Domain expertise signals

Personal genomicsGenome browser UXGrounded chatPrivacy-first bio dataResponsible disclaimers
Technical deep dive09

DeDNA treats personal genomics as an interactive evidence-navigation problem. The assistant is useful because it can point users to loci, variants, and findings instead of answering from detached natural language alone.

Grounded navigation

The key interface contract is navigation from AI output into genome state. Variant chips, browser focus, and finding drawers stay synchronized so explanations remain connected to concrete records.

Uploaded-data boundary

The assistant must distinguish literature-grounded answers from user-uploaded variant analysis. That prevents the model from inventing variants or mixing public biomedical context with private genome state.

Variant communication

Personal genomics requires careful language around VUS, pathogenicity, rarity, hereditary risk, and non-medical use. The product demonstrates how to make uncertainty visible without making the experience useless.

Workspace design

The three-panel structure gives chat, genome browser, and findings distinct roles. This lets the assistant act as an interpretive layer over the genome rather than replacing the visual inspection workflow.

What this proves

  • AI-to-genome navigation contract
  • Separate Gemini modes for search and uploaded data
  • Variant tiering with explicit uncertainty
  • Genome browser state remains visible beside chat
3view modes
2Gemini modes
5classification tiers
3workspace panels
1nav contract
0invented variants
Technology stack03
TypeScript

TypeScript

Typed variant state, navigation contract, and Gemini orchestration in a Vite/React SPA.

React

React 19

Three-panel workspace — chat, genome browser, findings — with synchronized locus navigation.

Google Gemini

Google Gemini

Dual routing: Flash + Search for literature vs Pro + thinking for uploaded-variant analysis.

Tools implemented06

GenomeBrowser

Custom linear genome map with gene tracks, variant density, and coordinate navigation.

ChatCopilot

Grounded Q&A with structured sections: summary, findings, evidence, confidence, next steps.

navigateTo() contract

Single API syncing chat variant chips, viewer focus, and detail drawer.

Dual Gemini modes

Search-grounded Flash (gemini-3-flash-preview) for literature; deep-reasoning Pro (gemini-3-pro-preview) for user data.

VariantPanel + tiers

Filterable P/LP/VUS/LB/B findings with rare disease and hereditary cancer tracks.

Grounding rules

Never invent variants not in uploaded data; explicit VUS uncertainty language; not a medical device.

Stefan Creadore · @Eldergenixproduction agent systems mapped end to end