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. PruneriPenultimo
;
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.| File | Dimensione | Formato | |
|---|---|---|---|
|
03_1216_Guerini-Rocco.pdf
accesso aperto
Tipologia:
Publisher's version/PDF
Licenza:
Creative commons
Dimensione
1.64 MB
Formato
Adobe PDF
|
1.64 MB | Adobe PDF | Visualizza/Apri |
Pubblicazioni consigliate
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.




