Mega 2: Manipulation Environment for Genetic Analyses

Mega 2：遗传分析的操作环境

• 批准号: 7190578
• 负责人: Daniel E Weeks
• 金额: $ 17.62万
• 依托单位: UNIVERSITY OF PITTSBURGH AT PITTSBURGH
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-03-01 至 2010-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7190578
• 关键词: Automation; Bioinformatics; Case-Control Studies; Classification; Code; Communities; Complex; Computational Biology; Computer software; Country; Data; Data Set; Databases; Development; Diagnostic; Documentation; Environment; Facility Construction Funding Category; Family; Feedback; Genetic; Genetic Processes; Genetic Research; Genome Scan; Healthcare; Hereditary Disease; Imagery; Individual; Information Storage; Institution; Maintenance; Maps; Output; Performance; Plug-in; Predisposition; Process; Reading; Research Personnel; Research Project Grants; Resources; Role; Running; Science; Software Engineering; Source; Speed; Testing; Validation; Week; base; computer program; data acquisition; data management; design; evaluation/testing; file format; gene discovery; genetic analysis; human disease; improved; innovation; open source; portability; programs; software development; statistics; tool; usability

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.

描述（由申请人提供）：MEGA2是遗传分析的操纵环境，是一个独特的计算机程序，可促进作为基因研究的一部分收集的数据创建可分析的数据集。 MEGA2透明地允许用户准确有效地处理基于家庭或病例/控制研究的遗传数据。除了数据验证检查外，MEGA2还提供了分析设置功能，可为常用的遗传分析程序提供广泛的选择。它在全球遗传学研究界发挥了重要作用。根据该提案，我们计划使MEGA2成为具有高度增强功能的强大开源应用程序，同时在软件工程中采用最佳实践来满足开源项目的这些关键需求：跨OS平台的可移植性，能够随着遗传学研究的需求，广泛的文档，最大程度地重复使用代码，以及最大程度地提高代码，以及系统性测试以及系统性测试，以及系统性的测试和辩论，并进行了调试和维护。具体而言，我们计划显着提高MEGA2的可用性，数据输入处理能力，设置目标分析的能力以及其数据统计信息，诊断和结果的图形表示和存储。我们还将开发一个应用程序编程界面以及改进的文档和教程。 MEGA2已被用来加速基因发现研究，以供大量复杂的人类疾病。改善这种关键资源将对加速基因发现过程产生重大影响，这反过来又将缓解由于美国和全球范围内复杂的遗传疾病而导致的医疗保健负担。相关性：MEGA2用于对复杂人类疾病的遗传学的许多不同研究，使研究人员能够迅速更改文件格式并准备文件进行统计分析，并准确有效地处理遗传数据。因此，Mega2拥有并将继续显着加速对复杂人类疾病的易感基因座的映射和识别。