Evidentiary evaluation of single cells renders highly informative forensic comparisons across multifarious admixtures

Abstract

The consistency between DNA evidence and person(s) of interest (PoI) is summarized by a likelihood ratio (LR): the probability of the data given the PoI contributed divided by the probability given they did not. It is often the case that there are several PoI who may have individually or jointly contributed to the stain. If there is more than one PoI, or the number of contributors (NoC) cannot easily be determined, then several sets of hypotheses are needed, requiring significant resources to complete the interpretation.Recent technological developments in laboratory systems offer a way forward, by enabling production of single cell data. Though single-cell data may be procured by next generation sequencing or capillary electrophoresis workflows, in this work we focus our attention on assessing the consistency between PoIs and a collection of single cell electropherograms (scEPGs) from diploid cells – i.e., leukocytes and epithelial cells. Specifically, we introduce a framework that: I) clusters scEPGs into collections, each originating from one genetic source; II) for each PoI, determines a LR for each cluster of scEPGs; and III) by averaging the likelihood ratios for each PoI across all clusters provides a whole-sample weight of evidence summary. By using Model Based Clustering (MBC) in step I) and an algorithm, named EESCIt for Evidentiary Evaluation of Single Cells, that computes single-cell LRs in step II), we show that 99% of the comparisons rendered log LR values > 0 for true contributors, and of these all but one gave log LR > 5, regardless of the number of donors or whether the smallest contributor donated less than 20% of the cells, greatly expanding the collection of cases for which DNA forensics provides informative results.