Abstract

This study introduces a methodology for inferring the weight of the evidence (WoE) in the single nucleotide polymorphism (SNP)-typed DNA mixtures of forensic interest. First, we redefined some algebraic formulae to approach the semi-continuous calculation of likelihoods and likelihood ratios (LRs). To address the allelic dropouts, a peak height ratio index (“h,” an index of heterozygous state plausibility) was incorporated into semi-continuous formulae to act as a proxy for the “split-drop” model of calculation. Second, the original ratio at which a person of interest (POI) has entered into the mixture was inferred by evaluating the DNA amounts conferred by unique genotypes to any possible permutation of any locus of the typing protocol (unique genotypes are genotypes that appear just once in the relevant permutation). We compared this expected ratio (MRex) to all the mixing ratios emerging at all other permutations of the mixture (MRobs) using several (1 - χ2) tests to evaluate the probability of each permutation to exist in the mixture according to quantitative criteria. At the level of each permutation state, we multiplied the (1 - χ2) value to the genotype frequencies and the h index. All the products of all the permutation states were finally summed to give a likelihood value that accounts for three independent properties of the mixtures. Owing to the (1 - χ2) index and the h index, this approach qualifies as a fully continuous methodology of LR calculation. We compared the MRs and LRs emerging from our methodology to those generated by the EuroForMix software ver. 3.0.3. When the true contributors were tested as POIs, our procedure generated highly discriminant LRs that, unlike EuroForMix, never overcame the corresponding single-source LRs. When false contributors were tested as POIs, we obtained a much lower LR value than that from EuroForMix. These two findings indicate that our computational method is more reliable and realistic than EuroForMix.

Highlights

  • In the last two decades, multi-allelic polymorphisms have been widely used in the routine casework of forensic genetics

  • The other predictions were made by assuming an incorrect number of contributors. These data shows that NITZq quantitative predictions on the person of interest (POI) DNA amount are similar to those issued by the EuroForMix software—whereas predictions on unknown contributors operated by the two methods may occasionally diverge

  • On the semi-continuous side of the issue, we justified the viewpoint that the routine biallelic evidence at a mixture cannot be but biallelic (E{a;b}) and we modelled this predominant example of single nucleotide polymorphism (SNP) evidence by matrices of multiple, possible genotypic permutations

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Summary

Introduction

In the last two decades, multi-allelic polymorphisms (essentially short tandem repeats; STRs) have been widely used in the routine casework of forensic genetics. SNPs are practically ubiquitous; they can be typed en masse and their current typing procedures (next-generation sequencing; NGS) are unaffected by technical artifacts that normally complicate the process of STR typing [1,2]. Several SNP panels have been assembled for human identification and validated for forensic routine [3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20]

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