> For the complete documentation index, see [llms.txt](https://help.connected.illumina.com/llms.txt). Markdown versions of documentation pages are available by appending `.md` to page URLs; this page is available as [Markdown](https://help.connected.illumina.com/annotation/introduction/readme.md).

# Welcome

**DRAGEN Annotation** (previously known as Illumina Connected Annotation and Nirvana) is a software tool that provides translational research-grade variant annotation from AI models and traditional sources for genomic data.

It annotates SNVs, MNVs, insertions, deletions, indels, STRs, gene fusions, and structural variants, including CNVs. You can run it as a standalone package or embed it in larger workflows.

Inputs are VCF files. Outputs are structured JSON or optional VCF. JSON is the default and most complete output format. VCF output supports a reduced annotation set.

### Start here

To get started, select the guide for your version:

<table data-view="cards"><thead><tr><th></th><th data-hidden data-card-cover data-type="image">Cover image</th><th data-hidden data-card-target data-type="content-ref"></th></tr></thead><tbody><tr><td><strong>Current</strong> — <code>v4.0</code> — recommended for new deployments</td><td><a href="https://3508920906-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2F0ADJyhzPlTHw5HimbPLQ%2Fuploads%2Fgit-blob-0bd31b7ea1f98f74465c7edb5d3e3cd33b74261f%2FScreenshot%202026-09-29%20at%201.24.21%E2%80%AFPM.png?alt=media">Screenshot 2026-09-29 at 1.24.21 PM.png</a></td><td><a href="https://help.connected.illumina.com/annotation/v4.0/">v4.0</a></td></tr><tr><td><strong>Previous</strong> — <code>v3.27</code> — maintained documentation</td><td><a href="https://3508920906-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2F0ADJyhzPlTHw5HimbPLQ%2Fuploads%2Fgit-blob-e0ff054a9897b517e8edaafcb72426296b9ee7d7%2FScreenshot%202026-09-29%20at%201.24.25%E2%80%AFPM.png?alt=media">Screenshot 2026-09-29 at 1.24.25 PM.png</a></td><td><a href="https://help.connected.illumina.com/annotation/v3.27/">v3.27</a></td></tr></tbody></table>

### What does DRAGEN Annotation annotate?

DRAGEN Annotation uses Sequence Ontology consequences to describe transcript impact.

<figure><img src="https://3508920906-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2F0ADJyhzPlTHw5HimbPLQ%2Fuploads%2Fgit-blob-23f83ea4c015c39ca63f6b710e421a45b4ec22cc%2FScreenshot%202026-06-10%20at%204.57.08%E2%80%AFPM.png?alt=media" alt="Variant consequence overview"><figcaption><p>Transcript consequences are reported using Sequence Ontology terms.</p></figcaption></figure>

### Software Download

Please visit [DRAGEN Annotation](https://developer.illumina.com/illumina-connected-annotations).

### Reference genome support

DRAGEN Annotation supports `GRCh37.p13` and `GRCh38.p14`. We recommend using `GRCh38.p14` for any new work. See specific versioned user guides for details on supported reference genomes.

### Supplementary annotations

DRAGEN Annotation adds external data sources for variant and gene context.

Content is available in two tiers:

* **Basic** — available without a premium license
* **Professional** — requires a license

For licensing details, see [Licensed Content](/annotation/v3.27/introduction/licensedcontent.md). For access, contact `annotation_support@illumina.com`.

<table><thead><tr><th>Data Source</th><th width="216.3515625">Availability</th></tr></thead><tbody><tr><td><a href="/annotation/data-sources/cosmic.md">COSMIC</a></td><td>Professional</td></tr><tr><td><a href="/annotation/data-sources/omim.md">OMIM</a></td><td>Professional</td></tr><tr><td><span data-gb-custom-inline data-tag="emoji" data-code="2728">✨</span> <a href="/annotation/data-sources/primate-ai.md">PrimateAI-3D</a></td><td>Professional</td></tr><tr><td><span data-gb-custom-inline data-tag="emoji" data-code="2728">✨</span> <a href="/annotation/data-sources/promoterai.md">PromoterAI</a></td><td>Professional</td></tr><tr><td><span data-gb-custom-inline data-tag="emoji" data-code="2728">✨</span> <a href="/annotation/data-sources/splice-ai.md">SpliceAI</a></td><td>Professional</td></tr><tr><td><span data-gb-custom-inline data-tag="emoji" data-code="2728">✨</span> <a href="/annotation/data-sources/splice-ai-2.md">SpliceAI2</a></td><td>Professional</td></tr><tr><td><a href="/annotation/data-sources/1000genomes.md">1000 Genomes Project</a></td><td>Basic</td></tr><tr><td><a href="/annotation/data-sources/abraom.md">ABraOM</a></td><td>Basic</td></tr><tr><td><a href="/annotation/data-sources/alpha-missense.md">AlphaMissense</a></td><td>Basic</td></tr><tr><td><a href="/annotation/data-sources/amino-acid-conservation.md">Amino Acid Conservation</a></td><td>Basic</td></tr><tr><td><a href="/annotation/data-sources/cancer-hotspots.md">Cancer Hotspots</a></td><td>Basic</td></tr><tr><td><a href="/annotation/data-sources/clingen.md">ClinGen</a></td><td>Basic</td></tr><tr><td><a href="/annotation/data-sources/clinvar.md">ClinVar</a></td><td>Basic</td></tr><tr><td><a href="/annotation/data-sources/clinvar-preview.md">ClinVar Preview</a></td><td>Basic</td></tr><tr><td><a href="/annotation/data-sources/dann.md">DANN</a></td><td>Basic</td></tr><tr><td><a href="/annotation/data-sources/dbsnp.md">dbSNP</a></td><td>Basic</td></tr><tr><td><a href="/annotation/data-sources/decipher.md">DECIPHER</a></td><td>Basic</td></tr><tr><td><a href="/annotation/data-sources/fusioncatcher.md">FusionCatcher</a></td><td>Basic</td></tr><tr><td><a href="/annotation/data-sources/gerp.md">GERP</a></td><td>Basic</td></tr><tr><td><a href="/annotation/data-sources/gme.md">GME Variome</a></td><td>Basic</td></tr><tr><td><a href="/annotation/data-sources/gnomad.md">gnomAD</a></td><td>Basic</td></tr><tr><td><a href="/annotation/data-sources/mito-heteroplasmy.md">Mitochondrial Heteroplasmy</a></td><td>Basic</td></tr><tr><td><a href="/annotation/data-sources/mitomap.md">MITOMAP</a></td><td>Basic</td></tr><tr><td><a href="/annotation/data-sources/multiz-100-way.md">MultiZ 100 Way</a></td><td>Basic</td></tr><tr><td><a href="/annotation/data-sources/phylop.md">PhyloP Primate</a></td><td>Basic</td></tr><tr><td><a href="/annotation/data-sources/revel.md">REVEL</a></td><td>Basic</td></tr><tr><td><a href="/annotation/data-sources/topmed.md">TOPMed</a></td><td>Basic</td></tr></tbody></table>


---

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