Project title: Development of an IT platform for the storage, analysis, and interpretation of paediatric malignant tumour genome data

Period: 1 October 2024 – 30 September 2025

Project costs: 60 000,00 EUR

Project summary:

The aim of the project is to enhance the digital platform and ensure a standardized bioinformatics workflow for the storage, preprocessing, interpretation, and reporting of pediatric malignant tumor genome sequencing data. This will enable rapid access to datasets at different levels and their integration with clinical data.

Information published 29.10.2024.

Progress of the project:

1 October 2024 – 31 May 2025

As part of the project, a workflow has been developed for the identification and interpretation of somatic and germline genetic variations. The workflow enables the detection and visualization of single nucleotide variations, copy number alterations, structural variations, and fusion genes using open-access tools. In collaboration with the Children’s Clinical University Hospital, the workflow has been validated. 

Information published 30.05.2025.