Graduate Program in Chemistry, Department of Chemistry, University of Central Florida, Orlando, FL 32816-2366, USA.
National Center for Forensic Science, Orlando, FL 32816-2367, USA.
Genes (Basel). 2023 Mar 8;14(3):674. doi: 10.3390/genes14030674.
Probabilistic genotyping (PG) and its associated software has greatly aided in forensic DNA mixture analysis, with it primarily being applied to mixed DNA profiles obtained from bulk cellular extracts. However, these software applications do not always result in probative information about the identity of all donors to said mixtures/extracts. This is primarily due to mixture complexity caused by overlapping alleles and the presence of artifacts and minor donors. One way of reducing mixture complexity is to perform direct single cell subsampling of the bulk mixture prior to genotyping and interpretation. The analysis of low template DNA samples, including from single or few cells, has also benefited from the application of PG methods. With the application of PG, multiple cell subsamples originating from the same donor can be combined into a single analysis using the software replicate analysis function often resulting in full DNA profile donor information. In the present work, we demonstrate how two PG software systems, STRmix and EuroForMix, were successfully validated for single or few cell applications.
概率基因分型（PG）及其相关软件极大地辅助了法医 DNA 混合分析，主要应用于从细胞混合提取物中获得的混合 DNA 图谱。然而，这些软件应用程序并不总是能提供关于混合体/提取物中所有供体身份的有证据价值的信息。这主要是由于混合体的复杂性，包括重叠等位基因和伪影以及次要供体的存在。降低混合物复杂性的一种方法是在进行基因分型和解释之前，对批量混合物进行直接单细胞亚采样。PG 方法的应用也使低模板 DNA 样本（包括来自单个或少数细胞的样本）的分析受益。通过应用 PG，可以使用软件重复分析功能将来自同一供体的多个细胞亚样本组合到单个分析中，这通常会导致获得完整的 DNA 谱供体信息。在本工作中，我们展示了如何成功验证两种 PG 软件系统 STRmix 和 EuroForMix 用于单细胞或少数细胞应用。
