AIVA (AI-assisted Variant Analysis) is an AI-powered genomic diagnostics platform designed for diagnostic labs. It acts as your AI Clinical Analyst, powered by a 4M+ connection knowledge graph (AIVA-KG) to automate variant analysis and deliver genetic interpretations in 10 minutes instead of weeks. AIVA combines natural language interaction with ACMG-compliant classification to eliminate expert bottlenecks, with zero data retention for complete privacy.

AIVA integrates into your existing genomic workflow after sequencing and secondary analysis. You upload your VCF files from any pipeline, and AIVA performs tertiary analysis. Through natural conversation, you can ask questions, filter variants, and get instant ACMG-compliant classifications with detailed evidence summaries. Clinical reports are generated in your lab's exact format with one click.

Who is AIVA designed for?

AIVA is built for diagnostic laboratories performing genomic testing, including clinical labs, genetic testing providers, and research institutions. It serves lab directors, genetic counselors, variant analysts, clinical specialists, and bioinformaticians who need to analyze genetic variants efficiently while maintaining clinical accuracy and regulatory compliance.

How fast is AIVA compared to traditional genetic analysis?

AIVA delivers sample-to-insights in just 10 minutes. From VCF upload to clinical-grade report, what traditionally takes weeks of expert review is completed in minutes. AIVA can query 5 million variants in under 1 second, and each AI query takes less than 1 minute to search literature, query databases, and filter variants.

How long does it take to generate a clinical report with AIVA?

Clinical reports are generated instantly with AIVA. Traditional report generation takes days because analysts must manually compile findings, gather evidence, and format documentation. AIVA automates this entire process, producing custom clinical reports in your lab's exact format with one click.

How many cases can a specialist handle with AIVA?

Each specialist can handle 5-10x more cases when using AIVA. By reducing per-case analysis time from hours to minutes, AIVA allows your existing team to dramatically increase throughput without sacrificing accuracy or thoroughness. This means labs can scale their testing capacity without proportionally increasing staff.

What is ACMG/AMP variant classification?

ACMG/AMP variant classification is the gold standard framework established by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) for interpreting genetic variants. It categorizes variants into five classes: Pathogenic, Likely Pathogenic, Uncertain Significance (VUS), Likely Benign, and Benign. AIVA applies these criteria systematically and automatically, ensuring every classification meets clinical standards.

How accurate is AIVA's variant analysis?

AIVA ensures high accuracy through systematic application of ACMG/AMP criteria, real-time variant-disease association matching, and comprehensive evidence gathering from genomic databases and literature. Every classification includes detailed evidence summaries so analysts can verify the reasoning.

How does phenotype-aware analysis improve results?

Phenotype-aware analysis means AIVA considers the patient's clinical symptoms when classifying variants. Instead of analyzing variants in isolation, AIVA matches variant-disease associations to the patient's specific presentation. AIVA applies specific ACMG codes based on phenotype matching: PP4: Patient's phenotype highly specific for disease. PS4: Prevalence in affected vs controls. PP1/BS4: Cosegregation with disease

How much can labs save using AIVA?

Labs achieve significant cost savings with AIVA by reducing analysis time from weeks to just 10 minutes per case. These savings come from eliminating expert bottlenecks, dramatically increasing throughput without adding staff, and reducing time-to-insights. By automating the most time-intensive parts of variant analysis, AIVA allows labs to process more samples with existing resources.

Why is AIVA more cost-effective than traditional methods?

Each AI query takes less than 1 minute to search literature, query databases, and filter variants. Tasks that previously took an analyst 30-60 minutes of manual searching now happen in seconds. When you multiply this across hundreds of variants per case and dozens of cases per week, the time savings translate directly into cost savings. Your team processes more cases in less time without adding headcount.

What variant types does AIVA support?

AIVA supports all major clinically relevant variant types: SNVs and Indels: Single nucleotide variants and small insertions/deletions with ACMG/AMP classification. CNVs: Copy number variants including deletions, duplications, and complex rearrangements with ClinGen dosage sensitivity guidelines. Structural Variants: Large-scale genomic rearrangements including inversions, translocations, and complex SVs. Pharmacogenomics (PGx): Automated star allele calling across 88+ pharmacogenes with CPIC/DPWG guideline mapping, metabolizer phenotype prediction, and prescriber-ready reporting

What file formats does AIVA accept?

AIVA accepts VCF (Variant Call Format) files, as well as CSV and TSV files if you've already annotated your variants with another tool. Both compressed (.gz) and uncompressed files are supported. With our optional Parabricks pipeline, you can also upload FASTQ files directly from any sequencing platform. You can upload files through the web interface or programmatically via API for automated workflows. AIVA preserves all your custom annotations throughout analysis, whether from VEP, ANNOVAR, SnpEff, or your own tools.

Can AIVA integrate with our existing sequencing pipeline?

Yes, AIVA is pipeline-agnostic. It accepts VCF files from any bioinformatics pipeline including Sarek, GATK, DeepVariant, and Dragen. There's no vendor lock-in and no need to change your existing workflows. AIVA also integrates with Seqera Studio and offers full API access for custom integrations with your laboratory information systems. Alternatively, you can use our built-in Parabricks-powered secondary analysis pipeline to go directly from FASTQ to variants.

Can AIVA process FASTQ files directly?

Yes, with our optional Parabricks-powered secondary analysis pipeline. You can upload FASTQ files from any sequencing technology—both short-read (Illumina) and long-read (PacBio, Oxford Nanopore)—and AIVA will handle the complete workflow from raw reads to clinical report. The pipeline produces calls for all major variant types: SNVs/Indels, copy number variants (CNVs), structural variants (SVs), and pharmacogenomics (PGx) variants. This eliminates the need for separate bioinformatics infrastructure while still allowing labs with existing pipelines to use their own VCF outputs.

Does AIVA work with WES and WGS data?

Yes, AIVA supports both Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) data. For WGS, AIVA detects the full spectrum of variant types including SNVs/Indels, CNVs, structural variants, and PGx variants. WES analysis focuses on exonic SNVs/Indels and exon-level CNVs. The platform is designed to handle the variant volumes from either sequencing approach, providing the same fast, accurate analysis regardless of your sequencing strategy.

How does AIVA handle multi-sample VCF files?

AIVA natively supports multi-sample VCF files. You can upload family trios, case-control studies, or any multi-sample dataset without preprocessing. AIVA maintains sample relationships and allows you to analyze variants across samples while preserving individual sample annotations and quality metrics.

Can AIVA integrate with other AI tools using MCP?

Yes, AIVA supports Model Context Protocol (MCP) integrations in both directions. You can add external MCPs to AIVA to extend its analysis capabilities with your own tools or third-party services. You can also use AIVA as an MCP server in other AI agents like Claude Desktop, allowing you to query variants, search your genomic data, and run analyses directly from your preferred AI assistant.

Is AIVA HIPAA compliant?

Yes, AIVA is built on HIPAA-compliant infrastructure. We have BAA (Business Associate Agreement) agreements with all our cloud providers. The platform is designed from the ground up for healthcare compliance with automatic PHI detection and secure data handling.

Is AIVA GDPR compliant?

Yes, AIVA is fully GDPR compliant for users in the European Union. We process data based on consent, contractual necessity, and legitimate interests. Users have full rights to access, correct, delete, and port their data.

How long do you retain my data?

We practice zero-day data retention for genetic analysis data. Your genetic data is processed in real-time and permanently deleted immediately after analysis is complete. We do not store genetic samples or analysis results on our servers beyond the active session. This approach minimizes privacy risks while ensuring you maintain full control over your data.

Where is my data processed?

AIVA operates in India and the United States. Your data may be transferred to and processed in either location depending on your region. We ensure appropriate safeguards are in place for international transfers in compliance with applicable data protection laws, including GDPR Standard Contractual Clauses where required.

How is patient data protected in AIVA?

AIVA protects patient data through automatic PHI (Protected Health Information) detection to prevent accidental exposure and secure data handling practices. All infrastructure is designed to meet healthcare compliance requirements including HIPAA and GDPR, ensuring patient information remains protected at every step.

What training is needed to use AIVA?

Minimal training is required to use AIVA. The platform uses a natural conversation interface, so if you can describe what you're looking for, AIVA understands. There are no complex interfaces to learn or specialized query languages to master. Analysts can ask questions in plain language and get immediate, actionable results. Most users become productive within their first session.

Can we customize AIVA for our lab's workflow?

Yes, AIVA is highly customizable. You can configure the interface to show only relevant annotations, create custom clinical reports in your lab's exact format, and integrate custom tools using the Model Context Protocol (MCP). With 10+ built-in genomic tools and full API access, AIVA adapts to your workflow rather than forcing you to change how you work.

Whole Genome Interpretation in Minutes, Not Weeks

AIVA: Your AI Clinical Analyst

AI-powered variant analysis that eliminates expert bottlenecks and accelerates time to insights.

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AIVA Chat

What is the clinical significance of BRAF V600E mutation?

Querying ClinVar, gnomAD, COSMIC databases...

Searching PubMed literature (found 2,847 papers)...

Applying ACMG/AMP classification criteria...

AIVA

BRAF V600E is classified as Pathogenic:

Found in ~50% of melanomas, ~45% of papillary thyroid, ~10% of colorectal cancers
Constitutive MAPK pathway activation
Targeted therapies: Vemurafenib, Dabrafenib

Sources: ClinVar, COSMIC, PubMed

Try it yourself →

0 min

Sample to Insights

From VCF upload to clinical-grade report

0M+

AIVA-KG Connections

Gene-disease-drug-pathway knowledge graph

0 Days

Data Retention

HIPAA & GDPR compliant with immediate data deletion

Testimonials

What Researchers Are Saying

Trusted by genomics professionals worldwide

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

Solutions Built for Clinical Genomics

Purpose-built workflows for your specific use case

Rare Disease Interpretation

AI-powered rare disease interpretation with trio analysis, phenotype-aware ACMG classification, and 10-minute sample-to-insights turnaround.

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Variant Classification & Interpretation

Automated ACMG/AMP variant classification with 90% pathogenic sensitivity on FDA-approved clinical data, phenotype-aware reasoning, and structured evidence tracking.

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Pipeline Integrations

Pipeline-agnostic genomic analysis with Seqera Studio integration and compatibility with any sequencing platform or annotation tool.

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API & Extensibility

Extend AIVA with MCP protocol support, REST API access, 10+ built-in genomic tools, and full programmatic automation for custom workflows.

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Clinical Reporting & Compliance

One-click clinical report generation with custom templates, HIPAA/GDPR compliance, zero-day data retention, and automatic PHI detection and sanitization.

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Pharmacogenomics (PGx)

Automated star allele calling across 88+ pharmacogenes with CPIC/DPWG guideline mapping, metabolizer phenotype prediction, and prescriber-ready reporting.

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How AIVA Works

Automated AI-powered genomic variant analysis that eliminates bottlenecks

Traditional Lab Process

Sample Collection

1 day

Sequencing

3-5 days

Secondary Analysis

hours to days

Tertiary Analysis

1-2 weeks • Requires expert team

Report Generation

2-3 days

Total: 4+ Weeks

AIVA-Powered Lab Process

Sample Collection

1 day

Sequencing

3-5 days

Secondary AnalysisPowered by NVIDIA Parabricks

minutes to hours

AIVASecure • Zero-day retention • HIPAA compliant

1-2 hours • Agentic analysis

Instant Reports

Minutes

Total: < 1 Week

See AIVA in Action

Powerful features that transform your genomic workflow

AIVA Accepts

FASTQ files (Illumina, PacBio, Oxford Nanopore)

VCF from any secondary analysis pipeline

SNV/Indel, CNV, SV, and PGx variant types from FASTQ

Multi-sample VCFs and cohort analysis

STEP 01

Import Your Data

Upload FASTQ files directly or VCF from any pipeline. Our Parabricks-powered secondary analysis handles short-read and long-read sequencing and produces:

SNV/Indel calls
Copy number variant (CNV) detection
Structural variant (SV) analysis
Pharmacogenomics (PGx) star allele calling

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STEP 02

Customized Analysis Panel

Configure your ideal interface. Show only the annotations you need, filter by criteria, and flag variants of interest. AIVA adapts to how you work, not the other way around.

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STEP 03

Chat-Based Variant Analysis

Analyze variants through natural conversation. Ask questions about any variant and get instant ACMG-compliant classifications with detailed evidence summaries.

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STEP 04

API & MCP Integrations

Connect AIVA to Claude Desktop or other AI assistants via MCP. Query variants, search genomic data, and run analyses directly from your preferred AI tools.

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Why Labs Choose AIVA

Eliminate bottlenecks and scale your genomic testing

Faster Turnaround Time

Increase expert productivity by reducing analysis time from hours to minutes per case. AIVA accelerates variant interpretation and evidence gathering, allowing each specialist to handle 5-10x more cases while maintaining clinical accuracy and thoroughness.

Agentic Analysis

Analyze variants through natural conversation. Ask questions, request classifications, and explore evidence without navigating complex interfaces. AIVA acts as your AI analyst, understanding context and retrieving relevant data instantly from databases and literature.

Seamless Integration

Import VCF files from any secondary analysis pipeline, or use our optional Parabricks-powered pipeline to process FASTQs into SNV/Indel, copy number variant (CNV), structural variant (SV), and pharmacogenomics (PGx) calls from any sequencing technology (Illumina, PacBio, Oxford Nanopore). Add your in-house annotations using VEP, ANNOVAR, SnpEff, or custom tools without vendor lock-in.

Phenotype-Aware ACMG Classification

Get customized classifications for SNVs, Indels, copy number variants (CNVs), and structural variants (SVs) based on patient symptoms and clinical presentation. AIVA applies variant-type-specific frameworks — ACMG/AMP for sequence variants, ClinGen dosage sensitivity for CNVs — while matching phenotypes to known variant-disease associations in real-time.

Enterprise-Grade Security & Compliance

HIPAA and GDPR compliant with zero-day data retention. Your genetic data is processed in real-time and permanently deleted immediately after analysis. Built on secure, compliant infrastructure trusted by healthcare organizations worldwide.

Custom Clinical Reports

Generate clinical reports in your lab's exact format with one click. What traditionally takes 2-3 days is completed in minutes. Reports include detailed evidence summaries, ACMG classifications, and all supporting data ready for clinical review.

Frequently Asked Questions

Everything you need to know about AIVA

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Improve your lab's genomic testing capabilities

Join leading diagnostic labs using AI-powered variant analysis with 10 min sample to insights, 4M+ AIVA-KG connections, and 0 days data retention.

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