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临床躯体变异解读与报告的最佳实践

Best Practice for Clinical Somatic Variant Interpretation and Reporting.

机构信息

Division of Genomic Diagnostics, Department of Pathology & Laboratory Medicine, The Children's Hospital of Philadelphia, 3615 Civic Center boulevard, 706 ARC, Philadelphia, PA 19104, USA.

Division of Genomic Diagnostics, Department of Pathology & Laboratory Medicine, The Children's Hospital of Philadelphia, 3615 Civic Center boulevard, 706 ARC, Philadelphia, PA 19104, USA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

出版信息

Clin Lab Med. 2022 Sep;42(3):423-434. doi: 10.1016/j.cll.2022.04.006. Epub 2022 Aug 22.

Abstract

Because the clinical impact of cancer genomics is being increasingly recognized, tumor sequencing will likely continue to expand in breadth and scope. Therefore, it is vital for laboratory professionals to adopt the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists guidelines and create a standardized system of classification and nomenclature for somatic variants. Combining robust bioinformatics pipelines with thorough data analysis is necessary to efficiently and reproducibly identify and assess the impact of clinically relevant variants.

摘要

由于癌症基因组学的临床影响越来越受到重视,肿瘤测序可能会继续扩大广度和范围。因此,实验室专业人员采用分子病理学会、临床肿瘤学会和美国病理学家学院的指南,并为体细胞变异创建标准化的分类和命名系统是至关重要的。结合强大的生物信息学管道和彻底的数据分析对于高效和可重复地识别和评估临床相关变异是必要的。

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