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一个用于指导人类身份识别策略的单源和混合源短串联重复序列图谱的大规模数据集:PROVEDIt。

A large-scale dataset of single and mixed-source short tandem repeat profiles to inform human identification strategies: PROVEDIt.

作者信息

Alfonse Lauren E, Garrett Amanda D, Lun Desmond S, Duffy Ken R, Grgicak Catherine M

机构信息

Biomedical Forensic Sciences Program, Boston University School of Medicine, United States.

Center for Computational and Integrative Biology, Rutgers University, United States; Department of Computer Science, Rutgers University, Camden, United States; Department of Plant Biology and Pathology, Rutgers University, New Brunswick, United States.

出版信息

Forensic Sci Int Genet. 2018 Jan;32:62-70. doi: 10.1016/j.fsigen.2017.10.006. Epub 2017 Oct 24.

DOI:10.1016/j.fsigen.2017.10.006
PMID:29091906
Abstract

DNA-based human identity testing is conducted by comparison of PCR-amplified polymorphic Short Tandem Repeat (STR) motifs from a known source with the STR profiles obtained from uncertain sources. Samples such as those found at crime scenes often result in signal that is a composite of incomplete STR profiles from an unknown number of unknown contributors, making interpretation an arduous task. To facilitate advancement in STR interpretation challenges we provide over 25,000 multiplex STR profiles produced from one to five known individuals at target levels ranging from one to 160 copies of DNA. The data, generated under 144 laboratory conditions, are classified by total copy number and contributor proportions. For the 70% of samples that were synthetically compromised, we report the level of DNA damage using quantitative and end-point PCR. In addition, we characterize the complexity of the signal by exploring the number of detected alleles in each profile.

摘要

基于DNA的人类身份测试是通过将已知来源的PCR扩增多态性短串联重复序列(STR)基序与从不明确来源获得的STR图谱进行比较来进行的。诸如在犯罪现场发现的样本通常会产生一种信号,该信号是来自未知数量的未知贡献者的不完整STR图谱的组合,这使得解释成为一项艰巨的任务。为了促进STR解释挑战方面的进展,我们提供了超过25000个多重STR图谱,这些图谱由一至五个已知个体在从1到160个DNA拷贝的目标水平上产生。在144种实验室条件下生成的数据按总拷贝数和贡献者比例进行分类。对于70%的合成受损样本,我们使用定量和终点PCR报告DNA损伤水平。此外,我们通过探索每个图谱中检测到的等位基因数量来表征信号的复杂性。

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