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Biological information management with application to human genome data.

机译：生物信息管理及其在人类基因组数据中的应用。

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The goal of the Human Genome Project (HGP) is to obtain the complete DNA sequence of the estimated 3-4 billion nucleotide bases in the human genome. This project has generated enormous volumes of data, with a wide variety of types. The ability to fully utilize this and other associated information is paramount in the furthering of biomedical science. Given the complex nature of this data overload, new database management systems are required to store and manage information and allow users to improve their utilization of data. This work defines numerous characteristics of biological data which must be met in order to comprehensively manage complex biological data. In addition, we designed and implemented a generalized prototype system for managing HGP data.; The biological information represents a broad spectrum of highly complex, highly variable, rapidly changing, and often poorly-structured data. The most popular biological databases have been designed to handle a restricted type (or types) of data from a particular data set, thereby limited the ways in which this data could be used. Until recently, no portion of the human genome yet sequenced had been studied extensively enough to generate the variety and magnitude of data that would necessitate the development of an integrated genetic information system. The human mitochondrial DNA (mtDNA) offers an opportunity to attempt to model and integrate such varied data sets as clinical data, functional/organizational data, population data and gene-gene interaction data. There is now an extensive array of mtDNA functional and comparative genetic information, population variation data, and disease mutations. In developing MITOMAP, a human mitochondrial genome database, a need for a more general solution to the problems of biological data management was recognized. As a result we developed GENOME, the Georgia Tech-Emory Networked Object Management Environment (GENOME), a prototype database environment designed to manage complex biomedical data. GENOME is designed to allow the establishment of a network of searchable data sources for the Human Genome Project sites which have a complete DNA sequence available for a given genetic locus and have large amounts of information which they are trying to integrate.
机译：人类基因组计划（HGP）的目标是获得人类基因组中估计的3-4亿个核苷酸碱基的完整DNA序列。该项目已生成大量数据，具有各种类型。充分利用此信息和其他相关信息的能力在生物医学科学的发展中至关重要。考虑到这种数据过载的复杂性质，需要新的数据库管理系统来存储和管理信息，并允许用户提高其数据利用率。这项工作定义了生物学数据的许多特征，以便全面管理复杂的生物学数据必须满足这些特征。此外，我们设计并实现了用于管理HGP数据的通用原型系统。生物信息代表了高度复杂，高度可变，快速变化且通常结构不良的数据。设计最流行的生物数据库来处理来自特定数据集的受限类型的数据，从而限制了使用该数据的方式。直到最近，尚未对人类基因组测序的任何部分进行足够广泛的研究，以生成各种数据和大量数据，这将需要开发综合遗传信息系统。人类线粒体DNA（mtDNA）提供了一个机会，可以尝试对各种数据集进行建模和整合，例如临床数据，功能/组织数据，种群数据和基因-基因相互作用数据。现在有大量的mtDNA功能和比较遗传信息，种群变异数据和疾病突变。在开发人类线粒体基因组数据库MITOMAP时，人们认识到需要更通用的解决方案来解决生物数据管理问题。因此，我们开发了GENOME，即佐治亚州技术记忆网络对象管理环境（GENOME），这是一种旨在管理复杂生物医学数据的原型数据库环境。 GENOME旨在允许为人类基因组计划站点建立可搜索数据源网络，这些站点具有可用于给定遗传基因座的完整DNA序列，并且具有大量的信息，他们正在尝试整合这些信息。

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