ALFRED: A Resource for Research & Teaching Human Evolution

最近人类基因组数据量的激增可以用来帮助我们理解人类的进化史，包括我们作为一个物种与其他类人猿的关系，以及反映他们历史的更近的人类种群之间的关系。从我们对人类基因组的了解中获得的信息也与许多行为和社会科学相关。与考古学、历史人口学、语言学、人类学、法医人类学和种族研究等相关的一个领域是人类种群中存在的基因频率变异。当前种群中基因频率的变化是这些种群历史中所有因素的净遗传效应：相对内婚制与外婚制，过去和现在的种群规模，相对内婚制的时间长短，起源，选择等。对种群间现有遗传相似性的了解，为试图理解这些因素的作用的所有研究领域提供了相关信息。阿尔弗雷德（等位基因频率数据库，http://alfred.med.yale.edu/alfred/index.asp）是唯一的集中位置的基因频率变化的DNA多态性检测在大部分人类基因组的信息。该项目将进一步发展ALFRED，使其成为人类学遗传学领域和上述其他社会科学领域的资源。阿尔弗雷德数据的强化管理将继续进行，包括多个基因位点（功能基因和匿名基因位点）和多个种群的基因频率数据的输入。每个频率都有详细的描述/定义，包括使用协议研究的多态位点以及所研究的特定人群的特定样本。DNA序列水平上多态性的分子定义将与分子数据库相连接，而种群描述（姓名、语言、位置等）将与至少一个人种学数据库相连接。增强后的数据库将具有许多功能。它将成为本科和研究生阶段的教育资源。这将是一个跨学科的研究资源，为与新数据的比较提供参考基因频率。它将推动未来不同实验室的数据收集工作集中在那些早期研究表明将为特定研究问题提供最佳信息的遗传标记上。它将通过特定的社会/文化变量，如语言、地理位置、人口规模等，提供进入遗传学/基因组学世界的入口。相反，它将提供有关人种学和历史数据的链接，人类学遗传学家需要这些链接来解释他们收集的基因频率数据。作为基因组学数据库与相关行为科学和社会科学之间的桥梁，该数据库将为日益跨学科的现代研究提供基础设施。更广泛的影响：阿尔弗雷德已经是国际上使用的资源；增加数据的内容和可访问性只会增加其价值。它是一种独特的资源，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。为提高数据库的教育效用所提出的努力将为教学/学习正常的人类遗传变异以及这种变异如何在世界各地分布提供独特的资源，从而阐明我们作为一个物种的生物历史。我们也相信，了解正常的基因变异是防止种族主义者滥用基因数据的最可靠方法之一。

The recent explosion in the amount of data available on the human genome can be used to help us understand human evolutionary history, including both our relationship as a species to other great apes and much more recent relationships among human populations reflecting their histories. Information derived from our knowledge of the human genome is also relevant to many of the behavioral and social sciences. One area of particular relevance to archaeology, historical demography, linguistics, anthropology, forensic anthropology, and ethnic studies, among others, is the gene frequency variation that exists among human populations. Gene frequency variation among current populations is the net genetic effect of all of the factors in the history of those populations: relative endogamy versus exogamy, past and present population sizes, length of time relatively endogamous, origins, selection, etc. Knowledge of the existing genetic similarities among populations provides relevant information to all of the research domains trying to understand the role of any of those factors. ALFRED (the ALlele FREquency Database, http://alfred.med.yale.edu/alfred/index.asp) is the only centralized location for information on gene frequency variation for the DNA polymorphisms detected in the bulk of the human genome. This project will further develop ALFRED to serve as a resource for the anthropological genetics field and the other social science areas noted above. Intensive curation of data for ALFRED will continue with the entry of gene frequency data for multiple genetic loci (both functional genes and anonymous loci) and multiple populations. Each frequency will have detailed descriptions/definitions of both the polymorphic site studied with protocols used as well as the specific sample of the specific population studied. The molecular definition of the polymorphism at the DNA sequence level will be linked to the molecular databases and the description of the population (name, language, location, etc.) will be linked to at least one ethnographic database.The enhanced database will serve many functions. It will be an educational resource at both the undergraduate and graduate levels. It will be an inter-disciplinary research resource providing reference gene frequencies for comparison with new data. It will provide impetus to focus future data collection efforts in diverse labs on those genetic markers that early studies suggest will provide the best information on specific research questions. It will provide entree to the genetics/genomics world via specific social/cultural variables such as language, geographic location, population size, etc. Conversely, it will provide links to relevant ethnologic and historical data on populations that anthropological geneticists need in order to interpret the gene frequency data they collect. As a bridge between the genomics databases and the relevant behavioral and social sciences the database will provide infrastructure to the increasingly interdisciplinary nature of modern research.Broader Impacts: ALFRED is already a resource used internationally; increasing the contents and accessibility of the data will only increase its value. It is a unique resource that makes otherwise inaccessible data readily available to users from a variety of different fields. The proposed efforts to enhance the educational utility of the database will provide a unique resource 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 racist misuse of genetic data.