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ELLA is a tool for clinical interpretation of genetic variants, developed with a particular focus on speed, quality and reproducibility.

Based on internationally accepted standards for variant assessment, as specified in the ACMG-AMP guidelines.

Open source.

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About ELLA

Clinical interpretation of genetic variants is a complicated process that depends on subjective judgement and unstructured evidence from research articles. This has led to variations in conclusions between laboratories, in some cases with serious medical consequences.

ELLA aims to reduce variability by guiding the interpreter through the various steps of an assessment based on ACMG-AMP guidelines, while simultaneously translating key facts into a format suitable for data processing. This makes it possible to automate parts of the process and suggest conclusions for the user. In addition, the justification for each assessment becomes more transparent, standardized and reproducible, which is crucial for reuse and sharing of results with other laboratories.

Information security and patient safety is at the core of ELLA, with a design that allows running in an air-gapped environment when necessary. The workflow encourages peer review of all variants of medical significance, and a complete history is kept of all changes.

Associated software

ELLA works in conjunction with the annotation service anno, with post-processing and preparation of data in anno-targets (generic example or in-house). For building and maintaining clinical gene panels we also offer the Gene panel builder, which utilizes information about PanelApp panels, transcripts, inheritance modes and coverage to tailor clinical gene panels to local needs.

Key features

Flexible workflow

Flexible workflow with categorized team work lists. Variants or samples, quick or thorough interpretation.


Advanced pre-filtering and on-the-fly tagging, including support for family data.


Retrieval and thorough evaluation of annotation and literature references.


Suggested criteria and variant classification based on ACMG-AMP guidelines.


Visualization of raw data (bam), structural data and user added tracks using igv.js.


Complete documentation and history of variant evaluations.


Advanced report generation using Apache Superset.

Open source

Open source code, available under a GNU GPL v3 licence. Visit our GitLab repository!



ELLA documentation

User manual, technical documentation and release notes for the main ELLA application.

anno documentation

Technical documentation and release notes for ELLA's companion annotation service. See also anno-targets (generic example or in-house).

Gene panel builder documentation

User manual, technical documentation and release notes for the Gene panel builder.

Download source code

ELLA and its associated annotation service is open source and freely available at GitLab under a GNU GPL v3 licence.
Go to GitLab


ELLA is developed at Oslo University Hospital in Norway, and the development team is part of the Bioinformatics group and the research group Digital solutions for genomic medicine at the Department of Medical Genetics.

Want to know more?

Contact us!

ELLA | Department of Medical Genetics | Oslo University Hospital | Norway