Precision DNA Mixture Interpretation with Single-Cell Profiling

Date

2021-10-20

Authors

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

ORCID

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

Journal Title

Journal ISSN

Volume Title

Publisher

MDPI

Abstract

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.

Description

Citation

Ge, 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

Rights

© 2021 by the authors.

License

Attribution 4.0 International (CC BY 4.0)