DNAxs/DNAStatistX: Development and validation of a software suite for the data management and probabilistic interpretation of DNA profiles |
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| Affiliation: | 1. Netherlands Forensic Institute, Division of Biological Traces, Laan van Ypenburg 6, 2497GB, The Hague, the Netherlands;2. Netherlands Forensic Institute, Division of Digital and Biometric Traces, Laan van Ypenburg 6, 2497GB, The Hague, the Netherlands;1. Department of Forensic Sciences, Oslo University Hospital, Oslo, Norway;2. Instituto de Ciencias Forenses, Grupo de Medicina Xenómica, Universidade de Santiago de Compostela, Santiago de Compostela, Spain;3. Institute of Clinical Medicine, University of Oslo, Oslo, Norway;1. Dipartimento di Chimica, Università degli Studi di Torino, Via P. Giuria 7, 10125, Torino, Italy;2. Centro Regionale Antidoping e di Tossicologia “A. Bertinaria”, Regione Gonzole 10/1, 10043, Orbassano, Torino, Italy;3. Accademia Italiana di Scienze Forensi, Viale Regina Margherita 9/D, 42124, Reggio Emilia, Italy;1. Department of Forensic Biology, Norwegian Institute of Public Health, Oslo, Norway;2. Department of Mathematics, University of Oslo, Oslo, Norway;3. Division of Biological Traces, Netherlands Forensic Institute, The Hague, The Netherlands;4. Department of Forensic Medicine, University of Oslo, Oslo, Norway;1. ESR, Private Bag 92021, Auckland 1142, New Zealand;2. University of Auckland, Department of Statistics, Private Bag 92019, Auckland 1142, New Zealand;3. Principal Forensic Services Ltd, United Kingdom;4. Forensic Science South Australia, 21 Divett Place, SA 5000, Australia;5. School of Biological Sciences, Flinders University, GPO Box 2100, Adelaide, SA 5001, Australia |
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| Abstract: | The data management, interpretation and comparison of sets of DNA profiles can be complex, time-consuming and error-prone when performed manually. This, combined with the growing numbers of genetic markers in forensic identification systems calls for expert systems that can automatically compare genotyping results within (large) sets of DNA profiles and assist in profile interpretation. To that aim, we developed a user-friendly software program or DNA eXpert System that is denoted DNAxs. This software includes features to view, infer and match autosomal short tandem repeat profiles with connectivity to up and downstream software programs. Furthermore, DNAxs has imbedded the ‘DNAStatistX’ module, a statistical library that contains a probabilistic algorithm to calculate likelihood ratios (LRs). This algorithm is largely based on the source code of the quantitative probabilistic genotyping system EuroForMix [1]. The statistical library, DNAStatistX, supports parallel computing which can be delegated to a computer cluster and enables automated queuing of requested LR calculations. DNAStatistX is written in Java and is accessible separately or via DNAxs. Using true and non-contributors to DNA profiles with up to four contributors, the DNAStatistX accuracy and precision were assessed by comparing the DNAStatistX results to those of EuroForMix. Results were the same up to rare differences that could be attributed to the different optimizers used in both software programs. Implementation of dye specific detection thresholds resulted in larger likelihood values and thus a better explanation of the data used in this study. Furthermore, processing time, robustness of DNAStatistX results and the circumstances under which model validations failed were examined. Finally, guidelines for application of the software are shared as an example. The DNAxs software is future-proof as it applies a modular approach by which novel functionalities can be incorporated. |
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| Keywords: | DNA profile interpretation DNA expert system DNAxs Likelihood ratio Probabilistic genotyping DNAStatistX EuroForMix |
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