Diagnostic variant analysis pipeline

Problem

Turku University Hospital needed a means of rapid and reliable detection of genetic variants from targeted sequencing of patient samples.

Solution

We implemented an analysis pipeline that detects genetic variants and annotates each variant with the key information needed by the geneticist. The pipeline was provided pre-installed in a dedicated computing server with an easy-to-use interface. We continued to provide updates and maintenance.

Outcome

The hospital geneticists can effectively analyze their targeted DNA-sequencing data using best practices without the need for a staff bioinformatician or additional computing infrastructure.

We needed bioinformatics support to establish a sequencing-based diagnostic facility at our hospital. Genevia team provided us with an analysis platform for our samples. They were very customer-centric, flexible and easy to work with. It made more sense to us to collaborate with a commercial operator than to recruit bioinformaticians.

Juha Pursiheimo Senior Scientist Turku Clinical Sequencing Laboratory

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