ELLA is a software tool for clinical interpretation of genetic variants that is developed and in use at the Department of Medical Genetics at Oslo University Hospital, Norway. 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 while simultaneously translating key facts into a format suitable for data processing.
Screenshots from ELLA:
Left: Visualization of raw data (bam), structural data and user added tracks using igv.js.
Middle: Advanced pre-filtering and on-the-fly tagging, including support for family data.
Right: ACMG-AMP-based classification with suggestions
ELLA is already in use at the Department of Medical Genetics at Oslo University Hospital. The developers are seeking an industrial partner for further development. For more information visit the ELLA webpage: http://allel.es/
ELLA is 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. 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.
Inven2 AS, the TTO at Oslo University Hospital, seeks collaboration or out-licensing of the software.