ALFRED: A Resource for Research & Teaching Human Evolution

最近人类基因组数据的爆炸式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，以及反映他们历史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特别相关的一个领域是人类群体中存在的基因频率变异。 当前种群之间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。种群之间现有的遗传相似性的知识提供了相关的信息，所有的研究领域试图了解任何这些因素的作用。 ALFRED（ALlele FREquency Database，http：//alfred.med.yale.edu/alfred/index.asp）是关于在人类基因组的大部分中检测到的DNA多态性的基因频率变化的信息的唯一集中位置。 该项目将进一步发展ALFRED，作为人类学遗传学领域和上述其他社会科学领域的资源。 ALFRED数据的密集管理将继续输入多个遗传基因座（功能基因和匿名基因座）和多个人群的基因频率数据。 每个频率将详细描述/定义使用所用方案研究的多态性位点以及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和人群描述（姓名、语言、地点等）相关联。将与至少一个人种学数据库连接。 它将成为本科生和研究生两级的教育资源。 这将是一个跨学科的研究资源，提供参考基因频率与新数据进行比较。 它将推动不同实验室未来的数据收集工作集中在那些遗传标记上，早期研究表明这些遗传标记将为特定研究问题提供最佳信息。 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，为遗传学/基因组学世界提供入口。它将提供人类学遗传学家解释他们收集的基因频率数据所需的有关人口的人种学和历史数据的链接。作为基因组学数据库与相关行为和社会科学之间的桥梁，该数据库将更广泛的影响：ALFRED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，使来自各种不同领域的用户可以随时获得无法访问的数据。 拟议的努力，以提高数据库的教育效用将提供一个独特的资源，教学/学习正常的人类遗传变异和变异是如何分布在世界各地，从而照亮我们作为一个物种的生物历史。 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.