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介绍法医遗传学知识库FROG-kb。

Introducing the Forensic Research/Reference on Genetics knowledge base, FROG-kb.

作者信息

Rajeevan Haseena, Soundararajan Usha, Pakstis Andrew J, Kidd Kenneth K

机构信息

Department of Genetics, Yale University School of Medicine, 333 Cedar Street, P,O,Box 208005, New Haven, CT 06520-8005, USA.

出版信息

Investig Genet. 2012 Sep 1;3(1):18. doi: 10.1186/2041-2223-3-18.

Abstract

BACKGROUND

Online tools and databases based on multi-allelic short tandem repeat polymorphisms (STRPs) are actively used in forensic teaching, research, and investigations. The Fst value of each CODIS marker tends to be low across the populations of the world and most populations typically have all the common STRP alleles present diminishing the ability of these systems to discriminate ethnicity. Recently, considerable research is being conducted on single nucleotide polymorphisms (SNPs) to be considered for human identification and description. However, online tools and databases that can be used for forensic research and investigation are limited.

METHODS

The back end DBMS (Database Management System) for FROG-kb is Oracle version 10. The front end is implemented with specific code using technologies such as Java, Java Servlet, JSP, JQuery, and GoogleCharts.

RESULTS

We present an open access web application, FROG-kb (Forensic Research/Reference on Genetics-knowledge base, http://frog.med.yale.edu), that is useful for teaching and research relevant to forensics and can serve as a tool facilitating forensic practice. The underlying data for FROG-kb are provided by the already extensively used and referenced ALlele FREquency Database, ALFRED (http://alfred.med.yale.edu). In addition to displaying data in an organized manner, computational tools that use the underlying allele frequencies with user-provided data are implemented in FROG-kb. These tools are organized by the different published SNP/marker panels available. This web tool currently has implemented general functions possible for two types of SNP panels, individual identification and ancestry inference, and a prediction function specific to a phenotype informative panel for eye color.

CONCLUSION

The current online version of FROG-kb already provides new and useful functionality. We expect FROG-kb to grow and expand in capabilities and welcome input from the forensic community in identifying datasets and functionalities that will be most helpful and useful. Thus, the structure and functionality of FROG-kb will be revised in an ongoing process of improvement. This paper describes the state as of early June 2012.

摘要

背景

基于多等位基因短串联重复序列多态性(STRP)的在线工具和数据库正积极应用于法医学教学、研究及调查中。世界各人群中每个联合DNA索引系统(CODIS)标记的Fst值往往较低,且大多数人群通常拥有所有常见的STRP等位基因,这削弱了这些系统区分种族的能力。最近,人们正在对用于人类识别和描述的单核苷酸多态性(SNP)开展大量研究。然而,可用于法医研究和调查的在线工具和数据库却很有限。

方法

FROG-kb的后端数据库管理系统(DBMS)是Oracle 10版本。前端使用Java、Java Servlet、JSP、JQuery和GoogleCharts等技术通过特定代码实现。

结果

我们展示了一个开放获取的网络应用程序FROG-kb(法医学遗传学研究/参考知识库,http://frog.med.yale.edu),它对法医学相关教学和研究很有用,并且可作为促进法医实践的工具。FROG-kb的基础数据由已被广泛使用和引用的等位基因频率数据库ALFRED(http://alfred.med.yale.edu)提供。除了以有序方式显示数据外,FROG-kb还实现了利用基础等位基因频率和用户提供的数据的计算工具。这些工具按不同已发表的SNP/标记面板进行组织。这个网络工具目前已实现了针对两种SNP面板的通用功能,即个体识别和祖先推断,以及针对眼睛颜色表型信息面板的特定预测功能。

结论

FROG-kb的当前在线版本已经提供了新的有用功能。我们期望FROG-kb在功能上不断发展和扩展,并欢迎法医界提供有关识别最有帮助和最有用的数据集及功能的意见。因此,FROG-kb的结构和功能将在持续改进过程中进行修订。本文描述了截至2012年6月初的状态。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3c53/3488007/87af70b4a784/2041-2223-3-18-1.jpg

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