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, ) 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.
