Ongoing Development of a Human Population Genetics Resource with Forensic Application

不断开发具有法医学应用的人类群体遗传资源

• 批准号: 1444279
• 负责人: Kenneth Kidd
• 金额: $ 37.92万
• 依托单位: Yale University
• 依托单位国家: 美国
• 项目类别: Standard Grant
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-08-15 至 2016-12-31
• 项目状态: 已结题
• 来源: https://www.nsf.gov/awardsearch/showAward?AWD_ID=1444279&HistoricalAwards=false
• 关键词: Ongoing; Development; Human; Population; Genetics

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.

目前DNA在刑事法医学、大规模灾难中的个人识别以及将个人与其生物学家庭联系起来方面的应用（例如，儿童被绑架者）已经确立了良好的科学理由。然而，先进的分子技术可能会使新型遗传标记更好地完成这些任务，并提供有用的法医证据，而目前标准法医应用中使用的技术是不可能的。在实施新的标识之前，必须为新标识及其解释奠定科学基础。由于美国有如此大比例的公民来自世界各地，因此科学必须具有全球视角。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了解人类遗传变异有关，特别是与DNA变异的法医学应用有关。 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ALFRED（Allele FREquency Database）目前包含3700万个等位基因频率条目，将用新数据丰富数据库，同时将与法医界一起修改这些数据的网络界面，使数据易于用于研究并在实际法医实践中有用。这项研究将为DNA的现有法医用途提供更多的科学支持，并将为在可能扩大DNA法医用途时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了解必要文件的重要任务。 ALFRED数据库和网络界面的最初设计是为了整合每个数据的分子、种群和出版方面的文档;这些功能已经运行了好几年，足以在当前项目中收集数据。 FROG-kb（法医资源/遗传学参考知识库）允许对数据进行几种特定的法医分析和相关统计数据的实际计算，将通过该项目得到加强。 由于该接口目前仅存在于原型版本中，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。