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下一代测序数据解读:提高可重复性和可及性。

Next-generation sequencing data interpretation: enhancing reproducibility and accessibility.

机构信息

Huck Institutes of the Life Sciences and the Department of Biochemistry and Molecular Biology, Penn State University, Wartik 505, University Park, Pennsylvania 16802, USA.

出版信息

Nat Rev Genet. 2012 Sep;13(9):667-72. doi: 10.1038/nrg3305.

DOI:10.1038/nrg3305
PMID:22898652
Abstract

Areas of life sciences research that were previously distant from each other in ideology, analysis practices and toolkits, such as microbial ecology and personalized medicine, have all embraced techniques that rely on next-generation sequencing instruments. Yet the capacity to generate the data greatly outpaces our ability to analyse it. Existing sequencing technologies are more mature and accessible than the methodologies that are available for individual researchers to move, store, analyse and present data in a fashion that is transparent and reproducible. Here we discuss currently pressing issues with analysis, interpretation, reproducibility and accessibility of these data, and we present promising solutions and venture into potential future developments.

摘要

生命科学研究领域中,原本在思想、分析实践和工具方面相互隔绝的领域,如微生物生态学和个性化医学,都已经采用了依赖下一代测序仪器的技术。然而,产生数据的能力远远超过了我们分析数据的能力。现有的测序技术比可供研究人员使用的方法更为成熟和容易获得,这些方法可用于以透明和可重复的方式移动、存储、分析和呈现数据。在这里,我们讨论了当前分析、解释、可重复性和这些数据的可及性方面的紧迫问题,并提出了有希望的解决方案,并探讨了潜在的未来发展。

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