Abstract

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.

Key points

• Biological data mining

• Omic approaches

• From genotype to phenotype

中文翻译：

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生物信息学：生命科学和个性化医学中的新工具和应用

摘要

虽然我们对编码特定蛋白质的序列时基因的功能有基本的了解，但我们仍缺乏关于DNA对特定疾病或所产生的数千种蛋白质功能的作用的信息。生物信息学结合了用于收集，存储，识别，分析和关联这些庞大而复杂的信息的方法。所有这些工作产生了“海洋”信息，这些信息只能借助计算机化方法来“航行”。目的是为科学家提供正确的方法，以解释正常的生物学过程，这些过程的功能障碍，这些疾病会引起疾病，并允许发现新的医学疗法。最近，测序平台，大规模的基因组和转录组，不仅给基因组学带来了新的挑战，而且还给生物信息学带来了新的挑战。本文的目的是汇总科学家用来处理从最近平台的大规模测序到新一代的信息以及该信息在包括医学在内的生命科学各个领域中的应用的工具和信息资源的列表。

关键点

•生物数据挖掘

•组学方法

•从基因型到表型