Introducing Noxia

Noxia is a clinical variant analysis platform that covers the full workflow from VCF upload to report sign-off.

What is Noxia

Noxia is a variant analysis platform for clinical laboratories. It covers the end-to-end workflow—from VCF upload, variant annotation, and ACMG classification to report sign-off—while also providing case management, review workflows, electronic signatures, and audit trails. It is where a lab manages its formal clinical operations over the long term.

Noxia works both on its own and alongside AI. Once connected to an agent tool (such as Claude Code), the AI combines a case’s clinical phenotype and gene attributes with the tools and knowledge Noxia provides to identify the causative variant that explains the phenotype; throughout the analysis you can discuss with the AI and dig deeper step by step. Noxia, meanwhile, is your visual workbench for reviewing data, approving variant classifications, and signing off reports—the two stay in sync bidirectionally through MCP.

How Noxia works

How Noxia fits into your workflow: you use both the agent tool and Noxia, the two communicate bidirectionally through MCP, and the agent tool reasons with a large language model MCP Tools · Knowledge LLM You (clinician)
Agent tool Claude Code
Noxia Variant analysis
Large language model
How Noxia fits into your workflow

The role of each part

  • You (the clinician) — You use both the agent tool and Noxia: issuing analysis instructions in natural language, and reviewing, approving variant classifications, and signing off reports in Noxia.
  • Agent tool (e.g. Claude Code) — Runs in your terminal; it understands natural language, orchestrates tool calls, and summarizes results.
  • Noxia — The complete clinical variant analysis platform. Through MCP (Model Context Protocol) it provides the agent tool with the tools and knowledge needed for variant analysis and syncs results bidirectionally; it also provides a visual workbench for reviewing variants, evidence, and ACMG classification, and for managing cases, reports, approvals, audits, and other formal clinical processes.
  • Large language model (LLM) — The reasoning engine behind the agent tool, responsible for language understanding and planning.

The flow of a single analysis

  1. You describe your need in the agent tool and provide context such as the case’s clinical phenotype and candidate genes (for example, “Here is the child’s phenotype and this VCF—please find the causative variant that explains the phenotype”).
  2. The AI combines the clinical phenotype and gene attributes with the tools and knowledge Noxia provides to annotate variants, retrieve evidence, and classify them, narrowing down candidate causative variants that explain the phenotype.
  3. You can discuss the candidate variants with the AI—asking about evidence, adjusting phenotype weights, comparing differential diagnoses—digging deeper until you reach a conclusion.
  4. Noxia syncs the structured evidence and classifications to the visual workbench for you to review and approve the variant classifications.
  5. Once everything checks out, you draft and sign off the clinical report in Noxia.

Next steps