Analysis 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.

Key features


Flexible workflow

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

Filtering

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

Annotation

Retrieval and thorough evaluation of annotation and literature references.

ACMG-AMP

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

Visualization

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

Documentation

Complete documentation and history of variant evaluations.

Reports

Advanced report generation using Apache Superset.

Open source

Open source code, available under MIT licence. Visit our
GitLab repository!



Documentation



User manual, technical documentation and release notes available here
(built using VuePress).
View documents


Download source code



ELLA is open source and freely available at GitLab under an MIT licence.
Go to GitLab


Contact



Want to know more?
Contact us!

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