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SmartRank验证:一种用于搜索具有复杂DNA图谱的国家DNA数据库的似然比软件。

Validation of SmartRank: A likelihood ratio software for searching national DNA databases with complex DNA profiles.

作者信息

Benschop Corina C G, van de Merwe Linda, de Jong Jeroen, Vanvooren Vanessa, Kempenaers Morgane, Kees van der Beek C P, Barni Filippo, Reyes Eusebio López, Moulin Léa, Pene Laurent, Haned Hinda, Sijen Titia

机构信息

Division of Biological Traces, Netherlands Forensic Institute, P.O. Box 24044, 2490AA, The Hague, The Netherlands.

Division of Biological Traces, Netherlands Forensic Institute, P.O. Box 24044, 2490AA, The Hague, The Netherlands.

出版信息

Forensic Sci Int Genet. 2017 Jul;29:145-153. doi: 10.1016/j.fsigen.2017.04.008. Epub 2017 Apr 15.

Abstract

Searching a national DNA database with complex and incomplete profiles usually yields very large numbers of possible matches that can present many candidate suspects to be further investigated by the forensic scientist and/or police. Current practice in most forensic laboratories consists of ordering these 'hits' based on the number of matching alleles with the searched profile. Thus, candidate profiles that share the same number of matching alleles are not differentiated and due to the lack of other ranking criteria for the candidate list it may be difficult to discern a true match from the false positives or notice that all candidates are in fact false positives. SmartRank was developed to put forward only relevant candidates and rank them accordingly. The SmartRank software computes a likelihood ratio (LR) for the searched profile and each profile in the DNA database and ranks database entries above a defined LR threshold according to the calculated LR. In this study, we examined for mixed DNA profiles of variable complexity whether the true donors are retrieved, what the number of false positives above an LR threshold is and the ranking position of the true donors. Using 343 mixed DNA profiles over 750 SmartRank searches were performed. In addition, the performance of SmartRank and CODIS were compared regarding DNA database searches and SmartRank was found complementary to CODIS. We also describe the applicable domain of SmartRank and provide guidelines. The SmartRank software is open-source and freely available. Using the best practice guidelines, SmartRank enables obtaining investigative leads in criminal cases lacking a suspect.

摘要

使用复杂且不完整的图谱在国家DNA数据库中进行搜索,通常会产生大量可能的匹配结果,这些结果会呈现出许多候选嫌疑人,供法医科学家和/或警方进一步调查。大多数法医实验室目前的做法是根据与搜索图谱匹配的等位基因数量对这些“命中结果”进行排序。因此,共享相同数量匹配等位基因的候选图谱无法区分,并且由于候选列表缺乏其他排序标准,可能很难从假阳性中辨别出真正的匹配,或者注意到所有候选实际上都是假阳性。开发SmartRank是为了只提出相关的候选者并相应地对其进行排序。SmartRank软件会为搜索图谱和DNA数据库中的每个图谱计算似然比(LR),并根据计算出的LR对高于定义的LR阈值的数据库条目进行排序。在本研究中,我们检查了不同复杂程度的混合DNA图谱,是否能找回真正的供体,高于LR阈值的假阳性数量以及真正供体的排名位置。在750多次SmartRank搜索中使用了343个混合DNA图谱。此外,在DNA数据库搜索方面比较了SmartRank和CODIS的性能,发现SmartRank与CODIS互补。我们还描述了SmartRank的适用范围并提供了指导方针。SmartRank软件是开源且免费可用的。使用最佳实践指南,SmartRank能够在缺乏嫌疑人的刑事案件中获得调查线索。

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