Dealing with allelic dropout when reporting the evidential value in DNA relatedness analysis

A method is suggested that allows the use of loci that have shown allelic dropout in kinship analysis as used for disaster victim identification (DVI) and missing person work (MP). This approach uses an extension of a previously published approach to modelling allelic dropout. This method may salvage some information in cases where allelic dropout is hindering DVI or MP work particularly in reconciliations involving a large number of bodies and pedigrees. It should not replace the pursuit of more complete DNA profiles by the normal rework process for such samples.     

Population data from sub-populations of the Northern Territory of Australia for 15 autosomal short tandem repeat (STR) loci

It is a requirement that forensic DNA profiling evidence be accompanied by an estimation of its weight, in order that the court can assign an appropriate probative value to the evidence during legal proceedings. There are various models by which this estimation can be made, but each relies on approximations of the allele frequencies in the relevant population. It is also important to assess relevant population genetic features of the available data. This report provides allele frequencies and estimates of common population genetic parameters for the major sub-populations of the Northern Territory of Australia genotyped at 15 autosomal short tandem repeat (STR) loci.     

The Probabilistic Genotyping Software STRmix: Utility and Evidence for its Validity

Forensic DNA interpretation is transitioning from manual interpretation based usually on binary decision‐making toward computer‐based systems that model the probability of the profile given different explanations for it, termed probabilistic genotyping (PG). Decision‐making by laboratories to implement probability‐based interpretation should be based on scientific principles for validity and information that supports its utility, such as criteria to support admissibility. The principles behind STRmix? are outlined in this study and include standard mathematics and modeling of peak heights and variability in those heights. All PG methods generate a likelihood ratio (LR) and require the formulation of propositions. Principles underpinning formulations of propositions include the identification of reasonably assumed contributors. Substantial data have been produced that support precision, error rate, and reliability of PG, and in particular, STRmix?. A current issue is access to the code and quality processes used while coding. There are substantial data that describe the performance, strengths, and limitations of STRmix?, one of the available PG software.     

An investigation into the relationship between edge counts and the variability of the refractive index of glass. Part I: Edge morphology

The effect of glass fragment morphology on the variability of refractive index values in five different glass objects was investigated. Data are presented that suggest that the variability of refractive index values is increased when fragment edge morphology becomes unsuitable for phase contrast microscopy.     

A continuous model for interpreting the positions of bands in DNA locus-specific work.

A simple but rigorous approach is offered for evaluating the evidential value of single locus DNA autoradiographs. This approach does not use a binning technique and it does not treat alleles as discrete variables. Instead, the allele distribution is considered to be continuous. The variation between two comparable bands is assessed using previously determined experimental parameters. The Bayesian treatment leads to an expression of the "quality of a match".     

The interpretation of shoeprint comparison class correspondences

The underlying principles involved in the interpretation of shoeprint comparisons have become a topical subject due to criticisms in the 2009 National Academy of Science (NAS) report on forensic sciences [1]. Difficulties in the application and understanding of these principles were also highlighted in a recent court ruling [2–5]. We report here a survey that may inform some aspects of this interpretation and discuss the implications of findings from this survey in the light of that court ruling and more importantly the NAS report.Five hundred shoeprints taken from student volunteers in Auckland, New Zealand were compared against each other for the presence of any pattern correspondences. Comparisons were undertaken of the full outsole and of smaller portions of the more common patterns.Of the 500 shoe impressions collected 488 (97.6%) were ultimately represented only once in the survey. The greatest number of corresponding patterns was for the most common brand of shoe (Converse Chuck Taylor All Star) and occurred in 3 of 500 observations. No instances of an imitation brand matching the authentic brand were found. Smaller sections of the common patterns showed a greater number of corresponding prints. However, the greatest number of matching partial patterns was again for the most common brand of shoe (Converse Chuck Taylor All Star) and occurred in 29 of 500 observations.We conclude that pattern match alone is of considerable evidential value even when the print is partial.     

An investigation of the rigor of interpretation rules for STRs derived from less than 100 pg of DNA

By increasing the PCR amplification regime to 34 cycles, we have demonstrated that it is possible routinely to analyse <100 pg DNA. The success rate was not improved (without impairing quality) by increasing cycle number further. Compared to amplification of 1 ng DNA at 28 cycles, it was shown that increased imbalance of heterozygotes occurred, along with an increase in the size (peak area) of stutters. The analysis of mixtures by peak area measurement becomes increasingly difficult as the sample size is reduced. Laboratory-based contamination cannot be completely avoided, even when analysis is carried out under stringent conditions of cleanliness. A set of guidelines that utilises duplication of results to interpret profiles originating from picogram levels of DNA is introduced. We demonstrate that the duplication guideline is robust by applying a statistical theory that models three key parameters - namely the incidence of allele drop-out, laboratory contamination and stutter. The advantage of the model is that the critical levels for each parameter can be calculated. This information may be used (for example) to determine levels of contamination that can be tolerated within the strategy employed. In addition we demonstrate that interpreting one banded loci, where allele dropout could have occurred, using LR=1/2f(a) was conservative provided that the band was low in peak area. Furthermore, we demonstrate that an apparent mis-match between crime-stain and a suspect DNA profile does not necessarily result in an exclusion. The method used is complex, yet can be converted into an expert system. We envisage this to be the next step.     

How reliable is the sub-population model in DNA testimony?

The performance of the sub-population model first proposed by Balding and Nichols [D.J. Balding, R.A. Nichols, DNA profile match probability calculation: how to allow for population stratification, relatedness, database selection and single bands. Forensic Sci. Int. 64 (1994) 125-140] is examined using a simulation approach. This work extends the investigations of Curran et al. [J.M. Curran, J.S. Buckleton, and C.M. Triggs, What is the magnitude of the sub-population effect? Forensic Sci. Int. 135 (2003) 1-8]. In particular the effect of underestimating the coancestry coefficient, theta, and the effect of departures from the modelling assumptions were investigated. The model tends to give strongly conservative estimates if the estimate for the coancestry coefficient is accurate. If this coefficient is underestimated then a larger fraction of cases give non-conservative estimates. Departures from the modelling assumption that the sub-population is in Hardy-Weinberg and linkage equilibria appear to have very little effect.