Ricke Darrell O, Fremont-Smith Philip, Watkins James, Stankiewicz Sara, Boettcher Tara, Schwoebel Eric
Bioengineering Systems & Technologies, Massachusetts Institute of Technology Lincoln Laboratory, 244 Wood Street, Lexington, MA.
J Forensic Sci. 2019 Sep;64(5):1468-1474. doi: 10.1111/1556-4029.14030. Epub 2019 Feb 22.
High-throughput sequencing (HTS) of large panels of single nucleotide polymorphisms (SNPs) provides an alternative or complimentary approach to short tandem repeats (STRs) panels for the analysis of complex DNA mixture forensic samples. For STRs, methods to estimate individual contribution concentrations compare capillary electrophoresis peak heights, peak areas, or HTS allele read counts within a mixture. This article introduces three approaches (mean, median, and slope methods) for estimating individual DNA contributions to forensic mixtures for HTS/massively parallel sequencing (MPS) SNP panels. For SNPs, the major:minor allele ratios or counts, unique to each contributor, were compared to estimate contributor proportion within the mixture using the mean, median, and slope intercept for these alleles. The estimates for these three methods were typically within 5% of planned experimental contributions for defined mixtures.
对大量单核苷酸多态性（SNP）进行高通量测序（HTS），为分析复杂DNA混合法医样本提供了一种替代或补充短串联重复序列（STR）面板的方法。对于STR，估计个体贡献浓度的方法是比较混合物中的毛细管电泳峰高、峰面积或HTS等位基因读数。本文介绍了三种用于估计HTS/大规模平行测序（MPS）SNP面板对法医混合物中个体DNA贡献的方法（均值、中位数和斜率法）。对于SNP，通过比较每个贡献者特有的主要等位基因与次要等位基因的比例或计数，使用这些等位基因的均值、中位数和斜率截距来估计混合物中贡献者的比例。对于确定的混合物，这三种方法的估计值通常在计划实验贡献的5%以内。
