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
{"title":"Part II - Analytical phase.","authors":"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","doi":"10.32074/1591-951X-1216","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":45893,"journal":{"name":"PATHOLOGICA","volume":"117 2(Suppl.1)","pages":"S18-S35"},"PeriodicalIF":2.9000,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"PATHOLOGICA","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.32074/1591-951X-1216","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PATHOLOGY","Score":null,"Total":0}
引用次数: 0
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 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.