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 interpretation, plays a central role in ensuring the accuracy and clinical utility of molecular results. This document aims at supporting pathology teams – comprising pathologists, technicians, and molecular biologists – during the implementation and execution of the analytical 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 / E. Guerini Rocco, K. Venetis, S. Bessi, S. Buglioni, C. Chiappetta, D. De Biase, G. De Maglio, P. Graziano, E. Macerola, C. Marchio, E. Melucci, M. Nacchio, F. Natoni, A. Vingiani, N. Fusco, U. Malapelle, G. Pruneri, F. Pagni. - In: PATHOLOGICA. - ISSN 1591-951X. - 117:2 Supplement 1(2025 Apr), pp. S18-S35. [10.32074/1591-951X-1216]

Part II - Analytical phase

E. Guerini Rocco
Primo
;
A. Vingiani;N. Fusco;G. Pruneri
Penultimo
;
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 interpretation, plays a central role in ensuring the accuracy and clinical utility of molecular results. This document aims at supporting pathology teams – comprising pathologists, technicians, and molecular biologists – during the implementation and execution of the analytical 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.
analytics; Pathology; precision medicine; recommendations; standardization;
Settore MEDS-04/A - Anatomia patologica
apr-2025
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/1247715
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