ALFRED: A Resource for Research & Teaching Human Evolution

最近人类基因组数据的爆炸性增长可以帮助我们了解人类进化史，包括我们作为一个物种与其他类人猿的关系，以及反映人类历史的更近的人类群体之间的关系。从人类基因组知识中获得的信息也与许多行为科学和社会科学有关。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存在于人类群体中的基因频率变异。当前种群的基因频率变异是这些种群历史上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度、起源、选择等。关于种群之间现有遗传相似性的知识为所有试图理解这些因素的作用的研究领域提供了相关信息。ALFRED(等位基因频率数据库，http://alfred.med.yale.edu/alfred/index.asp))是人类基因组中检测到的大部分基因多态的基因频率变异信息的唯一集中位置。该项目将进一步发展阿尔弗雷德，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。Alfred数据的密集整理将继续进行，录入多个遗传基因座(包括功能基因和匿名基因座)和多个群体的基因频率数据。每个频率都将详细描述/定义所使用的方案所研究的多态位点以及所研究的特定人群的特定样本。DNA序列一级多态的分子定义将与分子数据库和种群描述(名称、语言、地点等)相联系。将与至少一个人种学数据库链接。增强的数据库将提供许多功能。它将成为本科生和研究生的教育资源。它将是一个跨学科的研究资源，提供参考基因频率，用于与新数据进行比较。它将推动不同实验室未来的数据收集工作集中在那些早期研究表明将提供关于特定研究问题的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，它将提供与人类学遗传学家需要的有关人口的民族学和历史数据的链接，以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和社会科学之间的桥梁，该数据库将为现代研究日益跨学科的性质提供基础设施。广泛的影响：Alfred已经是一种国际使用的资源；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，使来自各种不同领域的用户可以很容易地获得原本无法访问的数据。拟议的加强数据库教育效用的努力将为教/学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史。我们还认为，了解正常的遗传变异是防止种族主义滥用遗传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.