McMahon F J, Thomas C J, Koskela R J, Breschel T S, Hightower T C, Rohrer N, Savino C, McInnis M G, Simpson S G, DePaulo J R
Department of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287-7381, USA.
Am J Med Genet. 1998 May 8;81(3):248-56.
The identification of genes underlying a complex phenotype can be a massive undertaking, and may require a much larger sample size than thought previously. The integration of such large volumes of clinical and laboratory data has become a major challenge. In this paper we describe a network-based data management system designed to address this challenge. Our system offers several advantages. Since the system uses commercial software, it obviates the acquisition, installation, and debugging of privately-available software, and is fully compatible with Windows and other commercial software. The system uses relational database architecture, which offers exceptional flexibility, facilitates complex data queries, and expedites extensive data quality control. The system is particularly designed to integrate clinical and laboratory data efficiently, producing summary reports, pedigrees, and exported files containing both phenotype and genotype data in a virtually unlimited range of formats. We describe a comprehensive system that manages clinical, DNA, cell line, and genotype data, but since the system is modular, researchers can set up only those elements which they need immediately, expanding later as needed.
识别复杂表型背后的基因可能是一项艰巨的任务，而且可能需要比先前认为的大得多的样本量。整合如此大量的临床和实验室数据已成为一项重大挑战。在本文中，我们描述了一个基于网络的数据管理系统，旨在应对这一挑战。我们的系统具有多个优点。由于该系统使用商业软件，它避免了获取、安装和调试私有软件的麻烦，并且与Windows和其他商业软件完全兼容。该系统采用关系数据库架构，具有极大的灵活性，便于进行复杂的数据查询，并加快了广泛的数据质量控制。该系统经过专门设计，能够高效整合临床和实验室数据，生成总结报告、谱系以及包含表型和基因型数据的导出文件，这些文件的格式几乎不受限制。我们描述了一个管理临床、DNA、细胞系和基因型数据的综合系统，但由于该系统是模块化的，研究人员可以仅设置他们当下所需的那些元素，并在需要时进行扩展。
