Mega 2: Manipulation Environment for Genetic Analyses

描述(由申请人提供)：Mega2，遗传分析操纵环境，是一个独特的计算机程序，用于促进从作为遗传研究一部分收集的数据创建分析就绪数据集。Mega2透明地允许用户准确和高效地处理基于家庭或病例/对照研究的基因数据。除了数据验证检查之外，Mega2还为各种常用的基因分析程序提供了分析设置功能。它在世界各地的遗传学研究界发挥了重要作用。根据这一提议，我们计划使Mega2成为一个功能强大、功能高度增强的开源应用程序，同时应用软件工程中的最佳实践来满足开源项目的这些关键需求：跨操作系统平台的可移植性、随着遗传学研究的需求而发展的能力、广泛的文档、最大限度地实现代码重用以及系统测试、调试和维护。具体地说，我们计划显著提高兆丰2的S可用性、数据输入处理能力、建立目标分析的能力，以及数据统计、诊断和结果的图形化呈现和存储。我们还将开发应用程序编程接口以及改进的文档和教程。Mega2已被用于加速对一大批复杂人类疾病的基因发现研究。改进这一关键资源将对加快基因发现进程产生重大影响，这反过来将减轻美国和世界范围内复杂遗传病造成的医疗负担。相关性：Mega2用于复杂人类疾病遗传学的许多不同研究，使研究人员能够迅速改变文件格式，准备用于统计分析的文件，并以透明的方式准确有效地处理遗传数据。因此，Mega2已经并将继续显著加快绘制和识别复杂人类疾病的易感基因座。

DESCRIPTION (provided by applicant): Mega2, the Manipulation Environment for Genetic Analysis, is a unique computer program for facilitating the creation of analysis-ready datasets from data gathered as part of a genetic study. Mega2 transparently allows users to process genetic data for family-based or case/control studies accurately and efficiently. In addition to data validation checks, Mega2 provides analysis setup capabilities for a broad choice of commonly-used genetic analysis programs. It has served an important role in the genetics research community worldwide. Under this proposal, we plan to make Mega2 a powerful open-source application with highly enhanced capabilities, while applying best practices in software engineering to meet these critical needs of an open-source project: portability across OS platforms, ability to evolve with the needs of genetics research, extensive documentation, maximizing code reuse, as well as systematic testing, debugging and maintenance. Specifically, we plan to significantly improve Mega2's usability, data input handling capabilities, its abilities to set up target analyses, and its graphical presentation and storage of data statistics, diagnostics, and results. We will also develop an Application Programming Interface and improved documentation and tutorials. Mega2 has been used to accelerate gene discovery studies for a large list of complex human diseases. Improving this crucial resource will have a significant impact on speeding up the gene-discovery process, which in turn will ease the healthcare burden due to complex genetic disease in the US and world-wide. Relevance: Mega2 is used in many different studies of the genetics of complex human diseases, enabling researchers to swiftly change file formats and prepare files for statistical analysis and transparently processing genetic data accurately and efficiently. As such, Mega2 has and will continue to markedly accelerate the mapping and identification of susceptibility loci for complex human diseases.