A Genetic Database for Anthropology

在过去的十年里，人类基因组的数据量几乎呈爆炸式增长。 人类基因组的数据可以帮助我们了解人类的进化历史，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社会科学有关。 然而，几乎没有什么基础设施可以帮助在人类基因组数据和社会科学数据之间提供接口。与历史、历史人口学、语言学、医学人类学、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。目前，在人类基因组的大部分中检测到的现代DNA多态性的基因频率变异信息没有集中的位置。 与这种资源最接近的是ALFRED的当前实现，即可通过Web访问的ALLele FREquency数据库http://alfred.med.yale.edu/alfred/index.asp。 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。 该数据库将包含多个遗传基因座（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。发展将涉及三个方面：从当前文献和过去15年左右的文献中持续积累基因频率数据，加强设计和实施（硬件和软件）以允许对因特网上的查询进行鲁棒和快速的响应，在分子方面与有关人类基因组数据库互连，在人口/社会科学方面与人种学和其他数据库互连。增强后的数据库将发挥许多功能。 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民族学和历史数据的链接。作为基因组学数据库和相关社会科学之间的桥梁，该数据库将提供基础设施的现代研究的日益跨学科的性质。

The past decade has seen a virtual explosion in the amount of data available on the human genome. Data 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 social sciences. Yet, there is little infrastructure available to help provide an interface between data on the human genome and data derived from the social sciences. One area of particular relevance to history, historical demography, linguistics, medical 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.Currently there is no centralized location for information on gene frequency variation for the modern DNA polymorphisms detected in the bulk of the human genome. The closest approximation to such a resource is the current implementation of ALFRED, the web-accessible ALlele FREquency Database http://alfred.med.yale.edu/alfred/index.asp. This project will further develop ALFRED to serve as a resource for the anthropological genetics field and the other social science areas noted above. The database will contain 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.Development will involve three aspects: curated on-going accumulation of gene frequency data from the current literature and that of the past 15 or so years, enhancement of the design and implementation (hardware and software) to allow robust and rapid response to queries over the internet, and implementation of interconnections to relevant human genomics databases on the molecular side and to ethnographic and other databases on the population/social science side. 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 social sciences the database will provide infrastructure to the increasingly interdisciplinary nature of modern research.