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

Marchio' C.;
2025-01-01

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.
2025
117
2
18
35
https://www.pathologica.it/article/view/1216/696
analytics; Pathology; precision medicine; recommendations; standardization
Guerini Rocco E.; Venetis K.; Bessi S.; Buglioni S.; Chiappetta C.; de Biase D.; De Maglio G.; Graziano P.; Macerola E.; Marchio' C.; Melucci E.; Nacc...espandi
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Descrizione: PATHOLOGICA 2025;117(Suppl.1):S18-S35
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/2127299
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