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, Elena; Venetis, Konstantinos; Bessi, Silvia; Buglioni, Simonetta; Chiappetta, Caterina; De Biase, Dario; De Maglio, Giovanna; Graziano, Paolo; Macerola, Elisabetta; Marchiò, Caterina; Melucci, Elisa; Nacchio, Mariantonia; Natoni, Federica; Vingiani, Andrea; Fusco, Nicola; Malapelle, Umberto; Pruneri, Giancarlo; Pagni, Fabio. - 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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