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临床细菌基因组测序:生物信息学面临的挑战与解决方案。

Bacterial genome sequencing in the clinic: bioinformatic challenges and solutions.

机构信息

Institute for Genome Sciences, Department of Microbiology and Immunology, University of Maryland School of Medicine, Baltimore, Maryland, USA.

出版信息

Nat Rev Genet. 2014 Jan;15(1):49-55. doi: 10.1038/nrg3624. Epub 2013 Nov 26.

Abstract

The potential of bacterial whole-genome sequencing (WGS) to complement existing diagnostic infrastructures in clinical microbiology has been shown in proof-of-principle examples and extensively discussed. However, less attention has been drawn to bioinformatic challenges that are associated with the clinical adoption of WGS-based molecular diagnostics. This Perspective article discusses questions that are related to standard operating procedures, computational resource management, and data storage and integration in the context of recent developments in the sequencing and bioinformatics service markets.

摘要

细菌全基因组测序(WGS)在临床微生物学中补充现有诊断基础设施的潜力已在原理验证示例中得到证明,并进行了广泛讨论。然而,人们对与基于 WGS 的分子诊断临床应用相关的生物信息学挑战关注较少。本文观点讨论了与标准操作规程、计算资源管理以及测序和生物信息学服务市场最新发展背景下的数据存储和集成相关的问题。

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