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.
Guerini Rocco, E., Venetis, K., Bessi, S., Buglioni, S., Chiappetta, C., De Biase, D., et al. (2025). Part II - Analytical phase. PATHOLOGICA, 117(2), 18-35 [10.32074/1591-951X-1216].
Part II - Analytical phase
de Biase D.;
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
