Next-generation sequencing (NGS) has become a cornerstone of precision oncology, requiring standardized workflows in molecular pathology laboratories. The analytical phase, which includes all procedures from nucleic acid quantification to variant interpreta-tion, plays a central role in ensuring the accuracy and clinical utility of molecular results. This document aims at supporting pathology teams - comprising pathologists, techni-cians, and molecular biologists - during the implementation and execution of the ana-lytical phase of NGS testing. Key topics include clinical indications, platform and gene panel selection, bioinformatics pipelines, quality assurance strategies, and organizational considerations. The goal is to promote standardized, high-quality molecular diagnostics to advance precision pathology.
Part II - Analytical phase / Guerini-Rocco, E., Venetis, K., Bessi, S., Buglioni, S., Chiappetta, C., De Biase, D., De Maglio, G., Graziano, P., Macerola, E., Marchiò, C., Melucci, E., Nacchio, M., Natoni, F., Vingiani, A., Fusco, N., Malapelle, U., Pruneri, G., Pagni, F.. - In: PATHOLOGICA. - ISSN 1591-951X. - (2025). [10.32074/1591-951X-1216]
Part II - Analytical phase
Caterina Chiappetta;Paolo Graziano;
2025
Abstract
Next-generation sequencing (NGS) has become a cornerstone of precision oncology, requiring standardized workflows in molecular pathology laboratories. The analytical phase, which includes all procedures from nucleic acid quantification to variant interpreta-tion, plays a central role in ensuring the accuracy and clinical utility of molecular results. This document aims at supporting pathology teams - comprising pathologists, techni-cians, and molecular biologists - during the implementation and execution of the ana-lytical phase of NGS testing. Key topics include clinical indications, platform and gene panel selection, bioinformatics pipelines, quality assurance strategies, and organizational considerations. The goal is to promote standardized, high-quality molecular diagnostics to advance precision pathology.| File | Dimensione | Formato | |
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Part II - Analytical phase.pdf
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Note: Guerini Rocco_Part II - Analytical phase_2025
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1.64 MB | Adobe PDF |
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