School of Criminal Justice and Criminalistics, California State University, Los Angeles, 1800 Paseo Rancho Castilla, Los Angeles, CA, 90032, USA.
California Forensic Science Institute, California State University, Los Angeles, 5151 State University Drive, Los Angeles, CA, 90032, USA.
Int J Legal Med. 2021 Nov;135(6):2221-2233. doi: 10.1007/s00414-021-02631-x. Epub 2021 Aug 26.
The Illumina® MiSeq FGx™, in conjunction with the ForenSeq™ DNA Signature Prep kit, produces genotypes of the CODIS-required short tandem repeats and provides phenotype and biogeographical ancestry estimations via phenotype-informative and ancestry-informative markers, respectively. Although both markers have been validated for use in forensic biology, there is little data to determine the practical utility of these estimations to assist in identifying missing persons using decedent casework samples. The accuracy and utility of phenotypic and ancestral estimations were investigated for 300 samples received by the Los Angeles County Department of Medical Examiner-Coroner. piSNP genotypes were translated into hair and eye colors using the Forenseq™ Universal Analysis Software (UAS) on the MiSeq FGx™ and the HIrisPlex System, and statistical accuracy was evaluated in context with the reported decedent characteristics. Similarly, estimates of each decedent's biogeographical ancestry were compared to assess the efficacy of these markers to predict ancestry correctly. The average UAS and the HIrisPlex system prediction accuracy for brown and blue eyes were 95.3% and 96.2%, respectively. Intermediate eye color could not be predicted with high accuracy using either system. Other than the black hair phenotype reporting an accuracy that exceeded 90% using either system, hair color was also too variable to be predicted with high accuracy. The FROG-kb database distinguishes decedents adequately beyond the Asian, African, European, and Admixed American global ancestries provided by the MiSeq FGx™ UAS PCA plots. FROG-kb correctly identified Middle Eastern, Pacific Islander, Latin American, or Jewish ancestries with accuracies of 70.0%, 81.8%, 73.8%, and 86.7%, respectively.
Illumina® MiSeq FGx™与 ForenSeq™ DNA Signature Prep 试剂盒结合使用，可生成 CODIS 要求的短串联重复序列的基因型，并通过表型信息标记和种族信息标记分别提供表型和生物地理起源估计。虽然这两种标记都已验证可用于法医生物学，但几乎没有数据可以确定这些估计在使用尸检样本识别失踪人员方面的实际效用。为了确定表型和祖先估计的准确性和实用性，对洛杉矶县法医局收到的 300 个样本进行了研究。piSNP 基因型使用 Forenseq™ Universal Analysis Software (UAS) 在 MiSeq FGx™和 HIrisPlex System 上分别转化为头发和眼睛颜色，并根据报告的死者特征评估统计准确性。同样，还比较了每个死者的生物地理起源估计值，以评估这些标记正确预测祖先的效果。UAS 和 HIrisPlex 系统预测棕色和蓝色眼睛的平均准确率分别为 95.3%和 96.2%。两种系统都无法准确预测中间色眼睛。除了黑头发表型报告使用两种系统的准确率均超过 90%之外，头发颜色也太可变，无法准确预测。FROG-kb 数据库能够在 MiSeq FGx™ UAS PCA 图谱提供的亚洲、非洲、欧洲和混合美洲全球祖先之外，充分区分死者。FROG-kb 正确识别中东、太平洋岛民、拉丁美洲或犹太血统的准确率分别为 70.0%、81.8%、73.8%和 86.7%。
