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公开可用的法医DNA序列混合数据的开发。

Development of Publicly Available Forensic DNA Sequence Mixture Data.

作者信息

Romsos Erica L, Kiesler Kevin M, Steffen Carolyn R, Borsuk Lisa A, Riman Sarah, Mullen Lauren E, Irwin Jodi A, Vallone Peter M, Gettings Katherine B

机构信息

National Institute of Standards and Technology, 100 Bureau Drive, Gaithersburg, MD 20899, USA.

Federal Bureau of Investigation Laboratory, 2501 Investigation Parkway, Quantico, VA 22135, USA.

出版信息

Genes (Basel). 2025 Mar 12;16(3):333. doi: 10.3390/genes16030333.

Abstract

: In 2018, the Next-Generation Sequencing Committee of SWGDAM queried bioinformatic and statistical interpretation method developers regarding data needs for the development of sequence-based probabilistic genotyping software. : Based on this engagement, a set of 74 mixture samples was conceived and created using 11 single-source samples. The allelic overlap among these samples was evaluated and sample combinations of varying complexity were selected, aiming to represent the variability observed in forensic casework. : The samples were distributed into a 96-well plate design containing several features: (1) three-person mixtures of 1% to 5% minor components in triplicate with varying levels of input DNA to provide information on sensitivity and reproducibility, (2) three-person mixtures containing degraded DNA of either only the major contributor or all three contributors, (3) four- and five-person mixtures with varying ratios and donors, (4) a single-source dilution series. : Mixture samples were prepared and have been sequenced thus far with three commercially available kits targeting forensic short tandem repeat (STR) and single nucleotide polymorphism (SNP) markers, with FASTQ data files and metadata publicly available at doi.org/10.18434/M32157.

摘要

2018年,SWGDAM下一代测序委员会就基于序列的概率基因分型软件开发的数据需求向生物信息学和统计解释方法开发者进行了询问。基于此次交流,构思并使用11个单源样本创建了一组74个混合样本。评估了这些样本之间的等位基因重叠情况,并选择了不同复杂程度的样本组合,旨在代表法医实际案件中观察到的变异性。这些样本被分配到一个96孔板设计中,该设计包含几个特点:(1)三人混合样本,次要成分含量为1%至5%,一式三份,输入DNA水平不同,以提供关于灵敏度和可重复性的信息;(2)三人混合样本,仅主要贡献者或所有三个贡献者的DNA均有降解;(3)四人及五人混合样本,比例和供体不同;(4)单源稀释系列。混合样本已制备完成,迄今为止已使用三种针对法医短串联重复序列(STR)和单核苷酸多态性(SNP)标记的商用试剂盒进行了测序,FASTQ数据文件和元数据可在doi.org/10.18434/M32157上公开获取。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0045/11941798/b8fda7f64493/genes-16-00333-g001.jpg

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