Systematic evaluation of STRmix™ performance on degraded DNA profile data

Abstract

This study examined the DNA degradation modeling capacity of STRmix™, a widely implemented DNA interpretation software program. As a part of the CAL DOJ STRmix™ v2.4 validation, a large volume of STR profile data was generated from intact template DNA exposed to DNase I for a series of increasing time intervals. The resulting degraded profile data was analyzed with STRmix™ v2.4, and the efficacy of the analysis was assessed, both in terms of how the degradation modeling parameter values from the STRmix™ analysis compared to ground truth values, and how the weight-of-evidence statistics calculated for degraded profiles compared to those calculated for corresponding intact profiles. An additional set of differentially degraded mixture data was generated in silico to further challenge the STRmix™ degradation model, as well as to determine the extent to which end-user adjustment of the model's application can assist in resolving analysis problems that arise when high levels of degradation are observed in a profile. This work demonstrates that the degradation model in STRmix™ is capable of addressing a wide range of degraded STR profile data. The assessment expands the range of samples that have been rigorously examined using probabilistic genotyping approaches, as called for by forensic advisory bodies such as the United States President's Council of Advisors on Science and Technology.

Keywords: Biological model; Degradation; Joint interpretation; Probabilistic genotyping; STRmix.