Highlights
- •EPGs peaks are assigned probabilistically as being artefactual or not using neural networks.
- •Models in STRmix are extended to incorporate these peak label probabilities.
- •FaSTR processed mixtures without an analytical threshold, AT, or human intervention.
- •These mixtures, with peak label probabilities, were analysed in STRmix.
- •Performance exceeded a ‘standard’ analysis using an AT and human reading.
Abstract
Standard processing of electrophoretic data within a forensic DNA laboratory is for
one (or two) analysts to designate peaks as either artefactual or non-artefactual
in a process commonly referred to as profile ‘reading’. Recently, FaSTR™ DNA has been
developed to use artificial neural networks to automatically classify fluorescence
within an electropherogram as baseline, allele, stutter or pull-up. These classifications
are based on probabilities assigned to each timepoint (scan) within the electropherogram.
Instead of using the probabilities to assign fluorescence into a category they can
be used directly in the profile analysis. This has a number of advantages; increased
objectivity in DNA profile processing, the removal for the need for analysts to read
profiles, the removal for the need of an analytical threshold. Models within STRmix™
were extended to incorporate the peak label probabilities assigned by FaSTR™ DNA.
The performance of the model extensions was tested on a DNA mixture dataset, comprising
2–4 person samples. This dataset was processed in a ‘standard’ manner using an analytical
threshold of 50rfu, analyst peak designations and STRmix™ V2.9 models. The same dataset
was then processed in an automated manner using no analytical threshold, no analysts
reading the profile and using the STRmix™ models extended to incorporate peak label
probabilities. Both datasets were compared to the known DNA donors and a set of non-donors.
The result between the two processes was a very close performance, but with a large
efficiency gain in the 0rfu process. Utilising peak label probabilities opens up the
possibility for a range of workflow process efficiency gains, but beyond this allows
full use of all data within an electropherogram.
Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Forensic Science International: GeneticsAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Probabilistic peak detection in CE-LIF for STR DNA typing.Electrophoresis. 2017;
- Teaching artificial intelligence to read electropherograms.Forensic Sci. Int.: Genet. 2016; 25: 10-18
- An artificial neural network system to identify alleles in reference electropherograms.Forensic Sci. Int.: Genet. 2017; 30: 114-126
- Using a multi-head, convolutional neural network with data augmentation to improve electropherogram classification performance.Forensic Sci. Int.: Genet. 2022; 56102605
- Analysis of forensic DNA mixtures with artefacts.J. R. Stat. Soc.: Ser. C (Appl. Stat.). 2015; 64: 1-48
- A fully continuous system of DNA profile evidence evaluation that can utilise STR profile data produced under different conditions within a single analysis.Forensic Sci. Int.: Genet. 2017; 31: 149-154
- Characterization of degradation and heterozygote balance by simulation of the forensic DNA analysis process.Int. J. Leg. Med. 2017; 131: 303-317
- Utilising allelic dropout probabilities estimated by logistic regression in casework.Forensic Sci. Int.: Genet. 2014; 9: 9-11
- Factors affecting peak height variability for short tandem repeat data.Forensic Sci. Int.: Genet. 2016; 21: 126-133
- Validation of a top-down DNA profile analysis for database searching using a fully continuous probabilistic genotyping model.Forensic Sci. Int.: Genet. 2021; 52102479
- DNA commission of the International Society of Forensic Genetics: Recommendations on the evaluation of STR typing results that may include drop-out and/or drop-in using probabilistic methods.Forensic Sci. Int.: Genet. 2012; 6: 679-688
- Ratios and distances of pull-up peaks observed in GlobalFiler kit data.Leg. Med. 2018; 34: 58-63
- A dropin peak height model.Forensic Sci. Int.: Genet. 2014; 11: 80-84
- Validating multiplexes for use in conjunction with modern interpretation strategies.Forensic Sci. Int.: Genet. 2016; 20: 6-19
- Developmental validation of FaSTR™ DNA: software for the analysis of forensic DNA profiles.Forensic Sci. Int.: Rep. 2021; 3100217
- Allele frequency database for GlobalFiler(TM) STR loci in Australian and New Zealand populations.Forensic Sci. Int.: Genet. 2017; 28: e38-e40
- A comprehensive study of allele drop-in over an extended period of time.Forensic Sci. Int.: Genet. 2020; 48
- Using continuous DNA interpretation methods to revisit likelihood ratio behaviour.Forensic Sci. Int.: Genet. 2014; 11: 144-153
- Exploring the probative value of mixed DNA profiles.Forensic Sci. Int.: Genet. 2019; 41: 1-10
- Validation of a neural network approach for STR typing to replace human reading.Forensic Sci. Int.: Genet. 2021; 55102591
- NOCIt: A computational method to infer the number of contributors to DNA samples analyzed by STR genotyping.Forensic Sci. Int.: Genet. 2015; 16: 172-180
- PACE: probabilistic assessment for contributor estimation - a machine learning-based assessment of the number of contributors in DNA mixtures.Forensic Science International: Genetics. 27. 2017: 82-91
- Estimating the number of contributors to a DNA profile using decision trees.Forensic Sci. Int.: Genet. 2021; 50102407
- TAWSEEM: A Deep-Learning-Based Tool for Estimating the Number of Unknown Contributors in DNA Profiling.Electronics. 2022; 11
Article info
Publication history
Published online: October 09, 2022
Accepted:
October 5,
2022
Received in revised form:
September 22,
2022
Received:
July 10,
2022
Identification
Copyright
© 2022 Elsevier B.V. All rights reserved.