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用于检测遗传性疾病种系变异的靶向新一代测序面板的开发与验证

Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases.

作者信息

Santani Avni, Murrell Jill, Funke Birgit, Yu Zhenming, Hegde Madhuri, Mao Rong, Ferreira-Gonzalez Andrea, Voelkerding Karl V, Weck Karen E

机构信息

From the Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (Dr Santani); the Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania (Drs Santani, Murrell, and Yu); the Department of Pathology, MGH/Harvard Medical School, Boston, Massachusetts (Dr Funke); the Laboratory for Molecular Medicine at Partners HealthCare, Personalized Medicine, Cambridge, Massachusetts (Dr Funke); the Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia (Dr Hegde); the Department of Pathology, ARUP Laboratories Institute for Clinical and Experimental Pathology (Dr Mao) and the Department of Pathology (Dr Voelkerding), University of Utah School of Medicine, Salt Lake City; the Division of Molecular Diagnostics, Department of Pathology, Virginia Commonwealth University, Richmond (Dr Ferreira-Gonzalez); Genomics and Bioinformatics, ARUP Laboratories, Salt Lake City, Utah (Dr Voelkerding); and the Department of Pathology and Laboratory Medicine and Genetics, University of North Carolina at Chapel Hill (Dr Weck).

出版信息

Arch Pathol Lab Med. 2017 Jun;141(6):787-797. doi: 10.5858/arpa.2016-0517-RA. Epub 2017 Mar 21.

DOI:10.5858/arpa.2016-0517-RA
PMID:28322587
Abstract

CONTEXT

  • The number of targeted next-generation sequencing (NGS) panels for genetic diseases offered by clinical laboratories is rapidly increasing. Before an NGS-based test is implemented in a clinical laboratory, appropriate validation studies are needed to determine the performance characteristics of the test.

OBJECTIVE

  • To provide examples of assay design and validation of targeted NGS gene panels for the detection of germline variants associated with inherited disorders.

DATA SOURCES

  • The approaches used by 2 clinical laboratories for the development and validation of targeted NGS gene panels are described. Important design and validation considerations are examined.

CONCLUSIONS

  • Clinical laboratories must validate performance specifications of each test prior to implementation. Test design specifications and validation data are provided, outlining important steps in validation of targeted NGS panels by clinical diagnostic laboratories.
摘要

背景

临床实验室提供的用于遗传疾病检测的靶向新一代测序（NGS）面板数量正在迅速增加。在临床实验室实施基于NGS的检测之前，需要进行适当的验证研究以确定检测的性能特征。

目的

提供用于检测与遗传性疾病相关的种系变异的靶向NGS基因面板的检测设计和验证示例。

数据来源

描述了2个临床实验室用于开发和验证靶向NGS基因面板的方法。研究了重要的设计和验证注意事项。

结论

临床实验室在实施每项检测之前必须验证其性能规格。提供了检测设计规格和验证数据，概述了临床诊断实验室对靶向NGS面板进行验证的重要步骤。

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