第二部分-分析阶段。

IF 2.9 Q1 PATHOLOGY
Elena Guerini-Rocco, Konstantinos Venetis, Silvia Bessi, Simonetta Buglioni, Caterina Chiappetta, Dario de Biase, Giovanna De Maglio, Paolo Graziano, Elisabetta Macerola, Caterina Marchiò, Elisa Melucci, Mariantonia Nacchio, Federica Natoni, Andrea Vingiani, Nicola Fusco, Umberto Malapelle, Giancarlo Pruneri, Fabio Pagni
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引用次数: 0

摘要

下一代测序(NGS)已经成为精确肿瘤学的基石,需要分子病理学实验室标准化的工作流程。分析阶段包括从核酸定量到变异解释的所有程序,在确保分子结果的准确性和临床实用性方面起着核心作用。本文件旨在支持病理团队(包括病理学家、技术人员和分子生物学家)实施和执行NGS检测的分析阶段。关键主题包括临床适应症、平台和基因面板选择、生物信息学管道、质量保证策略和组织考虑。目标是促进标准化,高质量的分子诊断,以推进精确病理。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Part II - Analytical phase.

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.

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来源期刊
PATHOLOGICA
PATHOLOGICA PATHOLOGY-
CiteScore
5.90
自引率
5.70%
发文量
108
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