DEVELOPMENT OF PORTABLE COMPUTER PROGRAMS FOR HUMAN GENETIC ANALYSIS

该子项目是利用 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH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 中心，不一定是研究者的机构。 特别行动小组遗传流行病学统计分析（Statistical Analysis for Genetic Epidemiology）计算机程序包为研究人员提供了对人类家族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，现有的计算机程序通常记录不全，而且不容易从一种计算机转移到另一种计算机。 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，这些程序有很好的文档记录，并且可以在不同的计算机和操作系统之间移植。 SAGE 6.0版于2009年1月发布，平均每年发布两次新版本。 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版的新功能包括一个全新的程序，ESPPAL，旨在使用所有相对多变量性状进行无模型连锁分析。 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.源代码在Berkley开源许可下提供。 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，以及一个有效的，通用的模拟程序。 S.A.G.E.的重大重新设计。目前正在审议这一问题，目的是使该软件更好地与因特网结合，并支持调查人员利用共同数据库进行协作。

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.