Clinical Bioinformatics

Analysis of genomic data for clinical purposes, from raw sequencing output to results that support diagnosis, prognosis and treatment decisions, not just research questions.

We cover the full analytical chain, from quality control and variant calling to annotation and interpretation support. This applies to both somatic testing in oncology and germline testing for hereditary and rare diseases, with the traceability, reproducibility and data protection that clinical use demands.

• Somatic testing
• Germline testing
• Variant interpretation

We take part in the hospital’s Molecular Boards, where multidisciplinary teams discuss complex and unusual clinical cases. Our role is to bring the molecular picture to the discussion.

We review and contextualise genomic findings, gather supporting evidence and comparable cases, and help translate molecular alterations into clinically actionable information.

We manage the internal databases that hold the molecular data generated within FPG500, FPG360 and GEN&RARE.

Keeping these data structured, consistent and queryable turns them into a lasting institutional resource: for patient follow-up, for retrospective analyses and for research built on real-world clinical cohorts.

We develop software that connects the steps of the genomics service, linking the sequencer, the laboratory information management system, data storage and the analysis platforms.

This reduces manual handoffs, tracks every sample along the way and makes sure data reach the right destination in the right format.

Computational support for FPG500, FPG360 and GEN&RARE, Fondazione Policlinico Gemelli’s institutional genomics initiatives.

• FPG500
• FPG360
• GEN&RARE

Analytical pipelines built for reproducibility and scale, so the same rigorous analysis runs reliably across hundreds of samples, not just one at a time.