Clinical Integration of Next-Generation Sequencing Technology

被引：41

作者：

Gullapalli, R. R.

Lyons-Weiler, M. ^{[3
]}

Petrosko, P. ^{[3
]}

Dhir, R. ^{[2
,3
]}

Becich, M. J. ^{[2
,3
]}

LaFramboise, W. A. ^{[1
,2
,3
]}

机构：

[1] Univ Pittsburgh, Sch Med, Shadyside Hosp, Dept Pathol, Pittsburgh, PA 15232 USA

[2] Univ Pittsburgh, Sch Med, Dept Biomed Informat, Pittsburgh, PA 15206 USA

[3] Univ Pittsburgh, Inst Canc, Pittsburgh, PA USA

来源：

CLINICS IN LABORATORY MEDICINE | 2012年 / 32卷 / 04期

关键词：

Clinical pathology; Computational pathology; Genomics; Genomic sequencing; Molecular diagnostics; Next generation sequencing; Tumor diagnostics; CANCER GENOME; IDENTIFICATION; PLATFORMS; MUTATIONS; LANDSCAPE; DISCOVERY; EGFR;

D O I：

10.1016/j.cll.2012.07.005

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Recent advances in next-generation sequencing (NGS) methods and technology have substantially reduced costs and operational complexity leading to production of benchtop sequencers and commercial software solutions for implementation in small research and clinical laboratories. This article addresses requirements and limitations to successful implementation of these systems, including (1) calibration and validation of the instrumentation, experimental paradigm, and primary readout, (2) secure data transfer, storage, and secondary processing, (3) implementation of software tools for targeted analysis, and (4) training of research and clinical personnel to evaluate data fidelity and interpret the molecular significance of the genomic output.

引用

页码：585 / +

页数：16

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