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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.

“On average, it cuts my literature review time per variant by about 25%. I can ask follow-up questions and dig deeper into ontology resources directly within the platform. It doesn’t replace my expertise, but it streamlines the process and lets me spend more time thinking critically about the variant instead of gathering evidence.”
Shaurita Hutchins PhD Researcher, University of Alabama at Birmingham
“I find AIVA very useful for analyzing personal genome data. This is the best AI enhanced genome annotation tool I’ve found that is highly usable and at a reasonable price.”
Eric Allen Genomics & AI/ML Senior Solutions Architect, Global HCLS, AWS

Core Capabilities

  • Getting Started

    Create your account, learn the interface, upload your first sample, and choose a subscription tier.

    Get started

  • 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.

    Manage samples

  • AIVA Chat

    Ask your AI assistant to query data, search literature, annotate variants, run Python code, explore knowledge graphs, and more.

    Start chatting

  • Table View

    Filter, sort, and explore variant data at scale. Perform tertiary analysis with category-based workflows, pharmacogenomics, and ACMG classification.

    Explore data

  • Reports

    Generate clinical reports with AI-assisted auto-fill, link samples, and export publication-ready documents.

    Build reports

  • Playbooks

    Browse, create, and share reusable analysis workflows.

    Browse playbooks

  • API Reference

    Programmatic access for uploads, chat, classification, exports, and MCP integration.

    View API docs

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 table view
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 user profile dropdown menu at any time, or visit the FAQ for answers to common questions.