ALFRED: Ongoing Growth of an Anthropological Resource

该奖项是根据2009年美国复苏和再投资法案（公法111-5）资助的。阿尔弗雷德（等位基因频率数据库，http://alfred.med.yale.edu）于2000年在耶鲁大学创建，并从那时起由美国国家科学基金会作为科学基础设施提供支持，一直在积累来自不同来源的人类种群的基因频率数据，目前有近50万个等位基因频率表，涉及来自世界各地近700个不同种群的18,000多个多态性数据。ALFRED已成为研究人类起源和扩展的宝贵国际资源；这些数据对生物医学研究也有意义和价值。这笔奖金将使已经取得成功的项目能够继续扩大数据库内容，办法是提供薪金支助，雇用一名全职馆长、一名兼职程序员和一名兼职学生。这个工作人员将把可用的新数据集成到ALFRED中，从而使数据库保持活跃。来自“非常高吞吐量”或VHT项目的数据将通过部分自动化的管理过程极大地扩展ALFRED的内容。将继续纳入科学文献中的其他数据，并优先考虑数据库中尚未包括的人口的结果。这个建议的智力优点包括以标准化的方式将以各种格式发布或公开提供的数据（通常使用非标准术语）组装到一个数据库中，并以用户友好的灵活方式访问这些数据。在这个过程中，我们需要有一个兼具人类学、分子生物学和计算机科学专业知识的团队。作为一种国际研究和教学使用的资源，ALFRED已经产生了广泛的影响。每个月都有数百名不同的用户访问ALFRED，并且ALFRED的引用经常出现在文献中。ALFRED是一种独特的资源，使用户可以轻松地从各种不同的领域获得否则无法访问的数据。继续通过增加其内容来改进现有数据库，只会提高其在研究和教学中的价值。提高数据库教育效用的提议将提高对大型数据集的可访问性，用于教学/学习正常人类遗传变异以及这种变异如何在世界范围内分布，从而阐明我们作为一个物种的生物历史。我们也相信，了解正常的遗传变异是防止滥用遗传数据的最可靠的方法之一。

This award is funded under the American Recovery and Reinvestment Act of 2009 (Public Law 111-5).ALFRED (the ALlele FREquency Database, http://alfred.med.yale.edu), created at Yale University in 2000 and supported since then by the NSF as scientific infrastructure, has been accumulating gene frequency data on human populations from diverse sources and currently has nearly 500,000 tables of allele frequencies involving over 18,000 polymorphisms with data on nearly 700 distinct populations from around the world. ALFRED has become a valuable international resource for research in human origins and expansion around the world; the data also have implications and value for biomedical research. This award will allow the already successful project to continue to enlarge the database contents by providing salary support to employ a staff of one full-time curator, a half-time programmer, and a part-time student. This staff will integrate into ALFRED new data becoming available, thus keeping the database active. Data from 'very high throughput' or VHT projects will greatly expand the contents of ALFRED through partially automating the curation process. Other data from the scientific literature will continue to be incorporated with priority given to results from populations not already represented in the database. The intellectual merit in this proposal consists of assembling into a single database in a standardized manner data that are published or publically available in diverse formats, often using non-standard terminology, and making those data accessible in user friendly, flexible ways. This process involves having a staff with a combination of expertise in anthropology, molecular biology, and computer science. ALFRED is already having a broad impact as a resource used internationally in research and teaching. Hundreds of different users access ALFRED every month and citations of ALFRED regularly occur in the literature. ALFRED is a unique resource that makes otherwise inaccessible data readily available to users from a variety of different fields.Continuing to improve the existing database by increasing its contents will only enhance its value in research and teaching. The proposed efforts to enhance the educational utility of the database will improve accessibility to large datasets for teaching/learning about normal human genetic variation and how that variation is distributed around the world, thereby illuminating our biological history as a species. It is also our belief that understanding normal genetic variation is one of the surest ways to prevent misuse of genetic data.