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Big data challenges and opportunities in high-throughput sequencing

机译:高通量测序中的大数据挑战和机遇

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The advent of high-throughput sequencing, coupled with advances in computational methods, has enabled genome-wide dissection of genetics, evolution, and disease, with nucleotide resolution. The discoveries derived from genomics promise benefits to basic research, biotechnology, and medicine; however, the speed and affordability of sequencing has resulted in a flood of “big data” in the life sciences. In addition, the current heterogeneity of sequencing platforms and diversity of applications complicate the development of tools for analysis, and this has slowed widespread adoption of the technology. Making sense of the data and delivering actionable insight requires improved computational infrastructure, new methods for interpreting the data, and unique collaborative approaches. Here we review the role of big data in genomics, its impact on the development of tools for collaborative analysis of genomes, and successes and ongoing challenges in coping with big data.
机译:高通量测序的出现,再加上计算方法的进步,使得能够在全基因组范围内对遗传学,进化和疾病进行解剖,并具有核苷酸分辨率。基因组学的发现有望为基础研究,生物技术和医学带来益处。然而,测序的速度和可承受性导致生命科学中“大数据”泛滥。此外,当前测序平台的异构性和应用程序的多样性使分析工具的开发复杂化,这减缓了该技术的广泛采用。理解数据并提供可行的见解需要改进的计算基础架构,新的数据解释方法以及独特的协作方法。在这里,我们回顾了大数据在基因组学中的作用,它对基因组协作分析工具的开发的影响,以及在应对大数据方面的成功与持续挑战。

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