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朝向绘制基因组的生物学图谱。

Toward mapping the biology of the genome.

机构信息

Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Advanced Technology Center, Bethesda, Maryland 20892-4605, USA.

出版信息

Genome Res. 2012 Sep;22(9):1612-5. doi: 10.1101/gr.144980.112.

Abstract

This issue of Genome Research presents new results, methods, and tools from The ENCODE Project (ENCyclopedia of DNA Elements), which collectively represents an important step in moving beyond a parts list of the genome and promises to shape the future of genomic research. This collection sheds light on basic biological questions and frames the current debate over the optimization of tools and methodological challenges necessary to compare and interpret large complex data sets focused on how the genome is organized and regulated. In a number of instances, the authors have highlighted the strengths and limitations of current computational and technical approaches, providing the community with useful standards, which should stimulate development of new tools. In many ways, these papers will ripple through the scientific community, as those in pursuit of understanding the "regulatory genome" will heavily traverse the maps and tools. Similarly, the work should have a substantive impact on how genetic variation contributes to specific diseases and traits by providing a compendium of functional elements for follow-up study. The success of these papers should not only be measured by the scope of the scientific insights and tools but also by their ability to attract new talent to mine existing and future data.

摘要

本期《基因组研究》呈现了 ENCODE 项目(DNA 元件百科全书)的新成果、新方法和新工具,这代表着超越基因组部分清单的重要一步,并有望塑造未来的基因组研究。本研究集阐明了基本的生物学问题,并为当前关于优化工具和方法学挑战的争论提供了框架,这些挑战是为了比较和解释以基因组的组织和调控为重点的大型复杂数据集所必需的。在许多情况下,作者强调了当前计算和技术方法的优缺点,为社区提供了有用的标准,这将刺激新工具的开发。在许多方面,这些论文将在科学界引起反响,因为那些致力于理解“调控基因组”的人将大量使用这些图谱和工具。同样,这项工作应该会通过提供功能元件的概要,对遗传变异如何导致特定疾病和特征产生实质性影响,以供后续研究。这些论文的成功不仅应通过科学见解和工具的范围来衡量,还应通过它们吸引新人才来挖掘现有和未来数据的能力来衡量。

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