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Bioinformatics: new tools and applications in life science and personalized medicine

机译:生物信息学:生命科学和个性化医学中的新工具和应用

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摘要

While we have a basic understanding of the functioning of the gene when coding sequences of specific proteins, we feel the lack of information on the role that DNA has on specific diseases or functions of thousands of proteins that are produced. Bioinformatics combines the methods used in the collection, storage, identification, analysis, and correlation of this huge and complex information. All this work produces an "ocean" of information that can only be "sailed" with the help of computerized methods. The goal is to provide scientists with the right means to explain normal biological processes, dysfunctions of these processes which give rise to disease and approaches that allow the discovery of new medical cures. Recently, sequencing platforms, a large scale of genomes and transcriptomes, have created new challenges not only to the genomics but especially for bioinformatics. The intent of this article is to compile a list of tools and information resources used by scientists to treat information from the massive sequencing of recent platforms to new generations and the applications of this information in different areas of life sciences including medicine.
机译:虽然我们在编码特定蛋白质序列时对基因的功能有基本的了解,但我们感到缺乏关于DNA在特定疾病中的作用或产生的数千种蛋白质的功能的信息。生物信息学结合了收集、存储、识别、分析和关联这些庞大而复杂信息的方法。所有这些工作产生了信息的“海洋”,只有借助计算机方法才能“航行”。其目标是为科学家提供正确的方法来解释正常的生物过程、导致疾病的这些过程的功能失调,以及允许发现新的医学疗法的方法。近年来,测序平台,即大规模的基因组和转录组,不仅给基因组学,尤其是生物信息学带来了新的挑战。本文的目的是编制一份工具和信息资源清单,供科学家使用,以处理从最近平台到新一代的大规模测序信息,以及这些信息在包括医学在内的生命科学不同领域的应用。

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