AIVA User Guide¶
AIVA is your AI Clinical Analyst for whole genome interpretation. Upload FASTQ or VCF files, annotate and classify variants, review evidence with an AI agent that understands your data, and generate clinical-grade reports, all from a single platform.
Core Capabilities¶
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Getting Started
Create your account, learn the interface, upload your first sample, and choose a subscription tier.
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Samples and Uploads
Upload VCF, CSV, and TSV files via drag-and-drop or cloud URLs. Optionally annotate with Small Variant Annotation or Structural Variant Annotation during upload.
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AIVA Chat
Ask your AI assistant to query data, search literature, annotate variants, run Python code, explore knowledge graphs, and more.
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Data Table
Filter, sort, and explore variant data at scale with a virtualized table built for millions of rows.
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Analysis
Perform tertiary analysis with category-based workflows, pharmacogenomics insights, and ACMG variant classification.
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Collaboration
Create projects, invite team members with role-based access, flag variants, and hold threaded discussions at the row level.
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Reports
Generate clinical reports with AI-assisted auto-fill, link samples, and export publication-ready documents.
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Playbooks
Browse, create, and share reusable analysis workflows.
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API Reference
Programmatic access for uploads, chat, classification, exports, and MCP integration.
Quick Links¶
| Resource | Description |
|---|---|
| Account Setup | Sign up, verify your email, and configure your profile |
| Uploading Your First Sample | End-to-end walkthrough from file selection to data table |
| Subscription Tiers | Compare Free, Trial, Plus, and Pro plans |
| AI Tools Reference | Full list of tools available to the AIVA assistant |
| Variant Classifier | Public ACMG/AMP variant classification tool |
| Compliance | PHI detection, access controls, and data security |
| FAQ | Answers to common questions |
Who Is AIVA For?¶
- Clinical geneticists triaging variants and writing diagnostic reports.
- Research scientists exploring large WGS/WES datasets with AI assistance.
- Bioinformaticians integrating AIVA into automated pipelines via the API.
- Lab directors managing multi-user projects with audit-ready compliance.
Need help?
Open the Help modal from the header at any time, or visit the FAQ for answers to common questions.