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Article

An open-source clinical bioinformatics pipeline for real-world NGS implementation: translating genomic variants into actionable treatment strategies in oncology.

Journal of translational medicine - 21 Jan 2026

Privitera Grete Francesca, Alaimo Salvatore, Micale Giovanni, Giaimi Luca, Mare Marzia, Lombardo Sofia Paola, Martorana Emanuele, Villa Riccardo, Ferro Alfredo, Forte Stefano, Pulvirenti Alfredo

Abstract excerpt

BACKGROUND: Next-Generation Sequencing (NGS) has become a cornerstone technology in clinical practice, yet its adoption presents significant challenges. Physicians and oncologists must manage vast amounts of genome-scale data and transform it into actionable insights for complex decision-making. While commercial systems exist to synthesize data from NGS experiments into clinical reports, many are hindered by...

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PMID: 41566376
DOI: 10.1186/s12967-026-07718-w
PMCID: PMC12905871

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