DEVELOPMENT OF PORTABLE COMPUTER PROGRAMS FOR HUMAN GENETIC ANALYSIS

用于人类遗传分析的便携式计算机程序的开发

• 批准号: 8171710
• 负责人: Robert C. Elston
• 金额: $ 50.41万
• 依托单位: CASE WESTERN RESERVE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-08-01 至 2011-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8171710
• 关键词: Address; Code; Collaborations; Complex; Computer Retrieval of Information on Scientific Projects Database; Computer software; Computers; Data; Data Set; Databases; Development; Family; Funding; Goals; Grant; Human; Human Genetics; Institution; Internet; Java; Joints; Learning; Licensing; Linux; Modeling; Operating System; Phenotype; Relative (related person); Research; Research Personnel; Resources; Running; Source; Source Code; Time; United States National Institutes of Health; base; computer program; design; genetic analysis; genetic epidemiology; genetic linkage analysis; graphical user interface; open source; programs; segregation; simulation; syntax; tool; trait

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The S.A.G.E. (Statistical Analysis for Genetic Epidemiology) computer program package provides researchers with the tools necessary for various types of statistical genetic analysis of human family data. Prior to the funding of this resource, few such computer programs were available, and those in existence were usually poorly documented and not easily transportable from one type of computer to another. This subproject has addressed these problems by developing computer programs for genetic analysis that are well documented and portable between different computers and operating systems. S.A.G.E. version 6.0 was released in January, 2009 and new releases of the software are posted, on average, twice per year. The program is constructed from compiled C++ code and runs on Windows, Unix/Linux, Solaris and MacOS platforms. The software includes a Java-based graphical user interface (GUI) designed to eliminate the need for new users to learn the complex syntax for program configuration. At the same time, advanced users may still create and analyze very sophisticated models using either the GUI or the more traditional command line version of the software. New features in version 6.0 include a completely new program, RELPAL, designed to perform model-free linkage analysis of a multivariate trait using all relative pairs. Significant improvements were made to the ASSOC program to make it better suited for analyzing large SNP data sets. Lastly, the S.A.G.E. source code was made available under the Berkley open source license. The next major release (version 6.1) is expected to include a new utility for managing high-throughput marker phenotypes, joint segregation and linkage analyses, and an efficient, generalized simulation program. A major redesign of S.A.G.E. is currently under consideration with the goal of making the software better integrated with the internet, and supporting collaboration between investigators using a common database.

该子项目是利用该技术的众多研究子项目之一 资源由 NIH/NCRR 资助的中心拨款提供。子项目及 研究者 (PI) 可能已从 NIH 的另一个来源获得主要资金， 因此可以在其他 CRISP 条目中表示。列出的机构是 对于中心来说，它不一定是研究者的机构。 S.A.G.E. （遗传流行病学统计分析）计算机程序包为研究人员提供了对人类家庭数据进行各种类型的统计遗传分析所需的工具。 在资助该资源之前，很少有这样的计算机程序可用，而且现有的程序通常记录很少，并且不容易从一种类型的计算机转移到另一种类型的计算机。 该子项目通过开发用于遗传分析的计算机程序来解决这些问题，这些程序有详细记录并可在不同计算机和操作系统之间移植。 圣人。 6.0 版于 2009 年 1 月发布，该软件的新版本平均每年发布两次。 该程序由编译的 C++ 代码构建，可在 Windows、Unix/Linux、Solaris 和 MacOS 平台上运行。 该软件包括一个基于 Java 的图形用户界面 (GUI)，旨在消除新用户学习复杂的程序配置语法的需要。 同时，高级用户仍然可以使用 GUI 或更传统的命令行版本的软件创建和分析非常复杂的模型。 6.0 版中的新功能包括一个全新的程序 RELPAL，旨在使用所有相关对对多变量性状进行无模型连锁分析。 ASSOC 程序进行了重大改进，使其更适合分析大型 SNP 数据集。 最后，S.A.G.E.源代码是根据伯克利开源许可证提供的。 下一个主要版本（版本 6.1）预计将包括一个用于管理高通量标记表型、联合分离和连锁分析的新实用程序，以及一个高效、通用的模拟程序。 S.A.G.E. 的重大重新设计目前正在考虑使该软件更好地与互联网集成，并支持使用通用数据库的研究人员之间的协作。