#11562. Evaluation of ArmedXpert software tools, MixtureAce and Mixture Interpretation, to analyze MPS-STR data
August 2026 | publication date |
Proposal available till | 17-05-2025 |
4 total number of authors per manuscript | 0 $ |
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Journal’s subject area: |
Law;
Pathology and Forensic Medicine; |
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More details about the manuscript: Science Citation Index Expanded or/and Social Sciences Citation Index
Abstract:
Massively parallel sequencing (MPS) technologies have revolutionized studies of genomic variations and transformed DNA analysis in multiple fields. In PCR-MPS methods targeting microsatellite markers, artifacts can arise from PCR (Polymerase chain reaction) mis-incorporation, PCR strand slippage (stutter), and sequencing error. In this study, we evaluated the ArmedXpert tools for the analysis of STR (Short Tandem Repeat) profiles of single-sourced and mixed samples generated by the ForenSeq™ DNA Signature Prep kit (Verogen). Data from eight experimental runs (240 samples) were analyzed: one benchmark run, two runs testing sensitivity with down to 50 pg DNA input, one run testing artificially degraded samples and DNA derived from bones, blood cards and teeth, as well as four runs with mixed DNA samples of varying ratios, sex, and different number of contributors (two to six). A total of 4869 artifacts were correctly classified, while 435 were mis-classified as alleles due to exceedance of initial threshold settings. This tool utilized the analyzed data from MixtureAce to calculate, based on the number of alleles at a locus and their read counts, possible deconvolution outcomes with their respective ratios.
Keywords:
DNA mixtures; ForenSeq™ DNA Signature Prep kit; Massively parallel sequencing; MixtureAce; Sequence identifier tool; Signal and noise recognition
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