Precision DNA Mixture Interpretation with Single-Cell Profiling

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dc.creatorGe, Jianye
dc.creatorKing, Jonathan L.
dc.creatorSmuts, Amy
dc.creatorBudowle, Bruce
dc.creator.orcid0000-0001-8724-075X (Ge, Jianye)
dc.date.accessioned2022-09-16T19:51:21Z
dc.date.available2022-09-16T19:51:21Z
dc.date.issued2021-10-20
dc.description.abstractWet-lab based studies have exploited emerging single-cell technologies to address the challenges of interpreting forensic mixture evidence. However, little effort has been dedicated to developing a systematic approach to interpreting the single-cell profiles derived from the mixtures. This study is the first attempt to develop a comprehensive interpretation workflow in which single-cell profiles from mixtures are interpreted individually and holistically. In this approach, the genotypes from each cell are assessed, the number of contributors (NOC) of the single-cell profiles is estimated, followed by developing a consensus profile of each contributor, and finally the consensus profile(s) can be used for a DNA database search or comparing with known profiles to determine their potential sources. The potential of this single-cell interpretation workflow was assessed by simulation with various mixture scenarios and empirical allele drop-out and drop-in rates, the accuracies of estimating the NOC, the accuracies of recovering the true alleles by consensus, and the capabilities of deconvolving mixtures with related contributors. The results support that the single-cell based mixture interpretation can provide a precision that cannot beachieved with current standard CE-STR analyses. A new paradigm for mixture interpretation is available to enhance the interpretation of forensic genetic casework.
dc.description.sponsorshipInternal funds from Center for Human Identification.
dc.identifier.citationGe, J., King, J. L., Smuts, A., & Budowle, B. (2021). Precision DNA Mixture Interpretation with Single-Cell Profiling. Genes, 12(11), 1649. https://doi.org/10.3390/genes12111649
dc.identifier.issn2073-4425
dc.identifier.issue11
dc.identifier.urihttps://hdl.handle.net/20.500.12503/31760
dc.identifier.volume12
dc.publisherMDPI
dc.relation.urihttps://doi.org/10.3390/genes12111649
dc.rights.holder© 2021 by the authors.
dc.rights.licenseAttribution 4.0 International (CC BY 4.0)
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceGenes (Basel)
dc.subjectDNA forensics
dc.subjectDNA mixture
dc.subjectclustering algorithm
dc.subjectconsensus profile
dc.subjectmixture interpretation
dc.subjectnumber of contributors
dc.subjectsingle-cell
dc.subject.meshAlgorithms
dc.subject.meshAlleles
dc.subject.meshCluster Analysis
dc.subject.meshDNA / analysis
dc.subject.meshDNA / chemistry
dc.subject.meshDNA / genetics
dc.subject.meshDNA Contamination
dc.subject.meshDNA Fingerprinting / methods
dc.subject.meshForensic Genetics / methods
dc.subject.meshForensic Genetics / trends
dc.subject.meshGenetic Techniques
dc.subject.meshGenotype
dc.subject.meshHumans
dc.subject.meshMicrosatellite Repeats
dc.subject.meshSingle-Cell Analysis / methods
dc.titlePrecision DNA Mixture Interpretation with Single-Cell Profiling
dc.typeArticle
dc.type.materialtext

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