Ongoing Development of a Human Population Genetics Resource with Forensic Application

目前在刑事法医鉴定、在大规模灾害中识别个人以及将个人与其亲生家庭联系起来（例如，童年时期被绑架的人）方面使用DNA已经得到充分确立，并有充分的科学依据。然而，先进的分子技术可能会使新型遗传标记在这些任务中表现得更好，并提供有用的法医证据，这是目前在标准法医应用中使用的技术所无法做到的。在这种新的实施之前，必须开发新的标记及其解释的科学依据。由于美国有如此大比例的公民拥有来自世界各地的祖先，科学必须具有全球视角。本研究项目的核心内容包括识别文献（和公共数据库）中的数据，这些数据可能与广泛理解人类遗传变异有关，特别是与DNA变异的法医应用有关。然后将从这些广泛分散的来源收集和评价最相关的数据。现有的大型数据库阿尔弗雷德（等位基因频率数据库），目前包括3700万个等位基因频率条目，将用新的数据丰富，而这些数据的基于网络的接口将被修改，与法医学界一起，使数据易于研究和在实际的法医学实践中有用。这项研究将为现有的DNA法医应用提供额外的科学支持，并将为在可能扩大DNA法医应用方面使用新的科学方法提供必要的科学支持。该项目涉及现有和新获得的数据的计算机化，这是一项涉及生物信息学技能和对必要文件的理解的重要任务。阿尔弗雷德数据库和网络界面最初设计为允许分子，人口和出版方面的每个数据的综合文档；这些功能已经工作了好几年，将足以汇编当前项目中的数据。该项目将加强FROG-kb（法医资源/遗传学知识库参考），它允许对数据进行几种具体的法医视图和相关统计数据的实际计算。由于该接口目前仅存在于原型版本，因此研究的一个主要方面将集中在基于积累的数据和对这些数据的分析来改进功能。

The current use of DNA in criminal forensics, in identification of individuals in mass disasters, and in connecting individuals to their biological families (e.g., childhood abductees) is already well established with good scientific justification. Advanced molecular technology, however, is likely to make new types of genetic markers even better at these tasks and provide useful forensic evidence not possible with the techniques currently used in standard forensic applications. Previous to such new implementation, the scientific basis for the new markers and their interpretations must be developed. And because the United States has such a large proportion of its citizens with ancestries from all parts of the world, the science must have a global perspective. The core aspects of this research project involve identifying data in the literature (and public databases) that are potentially relevant to understanding human genetic variation broadly, especially as relevant to forensic use of DNA variation. The most relevant data from these widely dispersed sources will then be assembled and evaluated. The extant large database, ALFRED (ALlele FREquency Database), currently inclusive of 37 million allele frequency entries, will be enriched with the new data, while the web-based interfaces to these data will be modified, in conjunction with the forensic community, to make the data readily available for research and useful in actual forensic practice. The research will provide additional scientific support for existing forensic use of DNA, and will provide the necessary scientific support of use of new scientific methodologies in the likely expansion of forensic application of DNA.The project involves computerization of existing and newly available data, a significant task involving skills in bioinformatics and an understanding of the necessary documentation. The ALFRED database and the web interface were originally designed to allow the integrated documentation of the molecular, population, and publication aspects of each datum; those functions have worked well for several years and will be adequate for assembling the data in the current project. FROG-kb (Forensic Resource/Reference on Genetics knowledge base), which allows several specific forensic views of the data and actual calculation of relevant statistics, will be enhanced through the project. And as the interface currently exists only in a prototype version, a major aspect of the research will focus on improving functionality based on the accumulated data and analyses of those data.