“Spring through the gateway”:使用XSEDE部署基因组工作流程

David Rhee, Joseph Hargitai, R. B. Calder, Pilib Ó Broin, Kevin R. Shieh, A. Golden
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引用次数: 1

摘要

测序技术的使用彻底改变了基因组学领域,使我们能够在碱基对水平上研究基因组的结构和功能变化。这些技术也可用于探测相关的表观基因组,其中dna结合蛋白改变基因组的结构完整性,以遗传方式限制或启用局部基因表达。通过测定这些蛋白质的结合位置,所谓的“表观遗传标记”可以用来发现和关联正在研究的分子功能和表型。由于这种“表观遗传标记”本质上具有固有的可塑性,容易受到环境刺激的干扰,因此它们是人类发育和疾病背景下一个引人注目的重要研究领域。最常研究的表观遗传标记之一是DNA甲基化:甲基附着在CpG二核苷酸中的胞嘧啶上——两个胞嘧啶核苷酸紧随其后的是两个鸟嘌呤核苷酸。这种修饰可以直接阻断调节蛋白与特定位置的结合,从而有效地“沉默”转录活动。人类基因组中大约有280万个这样的CpG位点,这使得它成为使用测序技术进行全基因组甲基化分析的绝佳目标。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
'Spring through the gateway': deploying genomic workflows with XSEDE
The use of sequencing technologies has revolutionized the field of genomics, allowing us to study structural and functional variations within the genome to base pair level. These technologies can also be used to probe the associated epigenome, where DNA-binding proteins alter the structural integrity of the genome, restricting or enabling localized gene expression in a heritable fashion. By using assays that identify the binding location of these proteins, so called 'epigenetic marks' can be used to discover and correlate molecular functions and phenotypes being studied. As such 'epigenetic marks' are inherently plastic in their nature, being easily perturbed by environmental stimuli, they are a compelling and important area of study in the context of human development and diseases. One of the most commonly studied epigenetic marks is DNA methylation: attachment of the methyl group to cytosines in CpG dinucleotides -- an occurrence where two cytosine nucleotides are immediately followed by two guanine nucleotides in tandem. This modification can directly block the binding of regulatory proteins to that specific location thus effectively 'silencing' transcriptional activities. There are roughly 2.8 million such CpG loci in a human genome, making it an excellent target for performing a genome-wide methylation assay using sequencing technologies.
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