Precision DNA Mixture Interpretation with Single-Cell Profiling




Ge, Jianye
King, Jonathan L.
Smuts, Amy
Budowle, Bruce


0000-0001-8724-075X (Ge, Jianye)

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Wet-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.



Ge, J., King, J. L., Smuts, A., & Budowle, B. (2021). Precision DNA Mixture Interpretation with Single-Cell Profiling. Genes, 12(11), 1649.


© 2021 by the authors.


Attribution 4.0 International (CC BY 4.0)