DEVELOPMENT OF PORTABLE COMPUTER PROGRAMS FOR HUMAN GENETIC ANALYSIS

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 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必需的工具。在为这一资源提供资金之前，几乎没有这样的计算机程序可用，而且现有的这些程序通常文件记载得很少，不容易从一种类型的计算机移植到另一种类型的计算机。这个子项目已经解决了这些问题，开发了用于基因分析的计算机程序，这些程序被很好地记录下来，并且可以在不同的计算机和操作系统之间移植。 S.A.G.E.版本6.0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程序配置的复杂语法的需要。同时，高级用户仍然可以使用该软件的图形用户界面或更传统的命令行版本创建和分析非常复杂的模型。版本6.0中的新功能包括一个全新的程序RELPAL，该程序旨在使用所有相对配对执行多变量性状的无模型连锁分析。对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.源代码是在Berkley开放源码许可下提供的。 下一个主要版本(6.1版)预计将包括一个新的实用程序，用于管理高通量标记表型、联合分离和连锁分析，以及一个高效、通用的模拟程序。目前正在考虑对S.A.G.E.进行重大重新设计，目的是使该软件更好地与互联网结合，并支持使用共同数据库的调查人员之间的合作。

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.