Ongoing Development of a Human Population Genetics Resource with Forensic Application

目前 DNA 在刑事取证、大规模灾难中识别个人以及将个人与其亲生家庭（例如儿童被绑架者）联系起来方面的应用已经得到充分证实，并具有良好的科学依据。然而，先进的分子技术可能使新型遗传标记能够更好地完成这些任务，并提供目前标准法医应用中使用的技术无法提供的有用的法医证据。在实施新的方法之前，必须为新标记及其解释奠定科学基础。由于美国有很大比例的公民拥有来自世界各地的血统，因此科学必须具有全球视野。该研究项目的核心方面涉及识别文献（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相关，特别是与 DNA 变异的法医使用相关。 然后将收集和评估来自这些广泛分散的来源的最相关的数据。现有的大型数据库 ALFRED（ALLele FREquency Database）目前包含 3700 万个等位基因频率条目，将通过新数据进行丰富，同时将与法医界一起修改这些数据的基于网络的界面，以使数据易于用于研究并在实际法医实践中发挥作用。该研究将为现有的 DNA 法医应用提供额外的科学支持，并将为可能扩大 DNA 法医应用的新科学方法的使用提供必要的科学支持。该项目涉及现有和新可用数据的计算机化，这是一项涉及生物信息学技能和对必要文档的理解的重要任务。 ALFRED 数据库和网络界面最初设计用于对每个数据的分子、群体和出版方面进行综合记录；这些功能多年来一直运行良好，足以汇总当前项目中的数据。 FROG-kb（法医资源/遗传学参考知识库）将通过该项目得到增强，它允许对数据进行多种特定的法医视图以及相关统计数据的实际计算。 由于该界面目前仅存在原型版本，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的基础上改进功能。

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.