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Calculating the weight of evidence in low-template forensic DNA casework.计算低模板法医DNA案件中的证据权重。
J Forensic Sci. 2013 Jan;58 Suppl 1(Suppl 1):S243-9. doi: 10.1111/1556-4029.12017. Epub 2012 Oct 19.
2
Validation of a DNA mixture statistics tool incorporating allelic drop-out and drop-in.验证一种包含等位基因缺失和嵌合的 DNA 混合物统计工具。
Forensic Sci Int Genet. 2012 Dec;6(6):749-61. doi: 10.1016/j.fsigen.2012.08.007. Epub 2012 Sep 20.
3
DNA commission of the International Society of Forensic Genetics: Recommendations on the evaluation of STR typing results that may include drop-out and/or drop-in using probabilistic methods.国际法医遗传学会 DNA 委员会:使用概率方法评估可能包含落号和/或冒号的 STR 分型结果的建议。
Forensic Sci Int Genet. 2012 Dec;6(6):679-88. doi: 10.1016/j.fsigen.2012.06.002. Epub 2012 Aug 3.
4
Comparison of STR profiling from low template DNA extracts with and without the consensus profiling method.使用和不使用共识分析方法时低模板DNA提取物的STR分析比较。
Investig Genet. 2012 Jul 2;3(1):14. doi: 10.1186/2041-2223-3-14.
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Validating TrueAllele® DNA mixture interpretation.验证TrueAllele® DNA混合样本解读方法
J Forensic Sci. 2011 Nov;56(6):1430-47. doi: 10.1111/j.1556-4029.2011.01859.x. Epub 2011 Aug 9.
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Allelic drop-out probabilities estimated by logistic regression--further considerations and practical implementation.基于逻辑回归估计的等位基因丢失概率——进一步的考虑和实际应用。
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Forensim: an open-source initiative for the evaluation of statistical methods in forensic genetics.Forensim:一个用于评估法医学中统计方法的开源计划。
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Forensic Sci Int Genet. 2011 Jun;5(3):202-9. doi: 10.1016/j.fsigen.2010.03.008. Epub 2010 May 7.
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Interpreting low template DNA profiles.解读低模板 DNA 谱。
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法庭科学中混合来源、低模板 DNA 谱的评估。

Evaluation of mixed-source, low-template DNA profiles in forensic science.

机构信息

University College London Genetics Institute, University College London, London WC1E 6BT, United Kingdom.

出版信息

Proc Natl Acad Sci U S A. 2013 Jul 23;110(30):12241-6. doi: 10.1073/pnas.1219739110. Epub 2013 Jul 1.

DOI:10.1073/pnas.1219739110
PMID:23818643
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3725068/
Abstract

Enhancements in sensitivity now allow DNA profiles to be obtained from only tens of picograms of DNA, corresponding to a few cells, even for samples subject to degradation from environmental exposure. However, low-template DNA (LTDNA) profiles are subject to stochastic effects, such as "dropout" and "dropin" of alleles, and highly variable stutter peak heights. Although the sensitivity of the newly developed methods is highly appealing to crime investigators, courts are concerned about the reliability of the underlying science. High-profile cases relying on LTDNA evidence have collapsed amid controversy, including the case of Hoey in the United Kingdom and the case of Knox and Sollecito in Italy. I argue that rather than the reliability of the science, courts and commentators should focus on the validity of the statistical methods of evaluation of the evidence. Even noisy DNA evidence can be more powerful than many traditional types of evidence, and it can be helpful to a court as long as its strength is not overstated. There have been serious shortcomings in statistical methods for the evaluation of LTDNA profile evidence, however. Here, I propose a method that allows for multiple replicates with different rates of dropout, sporadic dropins, different amounts of DNA from different contributors, relatedness of suspected and alternate contributors, "uncertain" allele designations, and degradation. R code implementing the method is open source, facilitating wide scrutiny. I illustrate its good performance using real cases and simulated crime scene profiles.

摘要

灵敏度的提高现在使得即使是经过环境暴露降解的样本,也仅需数十皮克的 DNA(对应几个细胞)即可获得 DNA 图谱。然而,低模板 DNA(LTDNA)图谱受到随机效应的影响,例如等位基因的“缺失”和“插入”,以及高度可变的 stutter 峰高。尽管新开发方法的灵敏度对犯罪调查人员极具吸引力,但法院对潜在科学的可靠性表示担忧。依赖 LTDNA 证据的高知名度案件在争议中崩溃,包括英国的 Hoey 案和意大利的 Knox 和 Sollecito 案。我认为,法院和评论员不应关注科学的可靠性,而应关注评估证据的统计方法的有效性。即使是嘈杂的 DNA 证据也可能比许多传统类型的证据更具说服力,只要不过分夸大其强度,对法庭也会有帮助。然而,LTDNA 图谱证据评估的统计方法存在严重缺陷。在这里,我提出了一种方法,允许在不同的缺失率、零星的插入率、不同供体的不同数量的 DNA、疑似供体和替代供体的亲缘关系、“不确定”等位基因指定和降解的情况下进行多次重复。实现该方法的 R 代码是开源的,便于广泛审查。我使用真实案例和模拟犯罪现场图谱来说明其良好的性能。