Validation of Probabilistic Genotyping Software for Single Cell STR Analysis

Kaitlin Huffman; Jack Ballantyne

doi:10.3390/genes14030674

Validation of Probabilistic Genotyping Software for Single Cell STR Analysis

Genes (Basel). 2023 Mar 8;14(3):674. doi: 10.3390/genes14030674.

Authors

Kaitlin Huffman¹, Jack Ballantyne^{1

2

3}

Affiliations

¹ Graduate Program in Chemistry, Department of Chemistry, University of Central Florida, Orlando, FL 32816-2366, USA.
² National Center for Forensic Science, Orlando, FL 32816-2367, USA.
³ Department of Chemistry, University of Central Florida, Orlando, FL 32816-2366, USA.

Abstract

Probabilistic genotyping (PG) and its associated software has greatly aided in forensic DNA mixture analysis, with it primarily being applied to mixed DNA profiles obtained from bulk cellular extracts. However, these software applications do not always result in probative information about the identity of all donors to said mixtures/extracts. This is primarily due to mixture complexity caused by overlapping alleles and the presence of artifacts and minor donors. One way of reducing mixture complexity is to perform direct single cell subsampling of the bulk mixture prior to genotyping and interpretation. The analysis of low template DNA samples, including from single or few cells, has also benefited from the application of PG methods. With the application of PG, multiple cell subsamples originating from the same donor can be combined into a single analysis using the software replicate analysis function often resulting in full DNA profile donor information. In the present work, we demonstrate how two PG software systems, STRmix^TM and EuroForMix, were successfully validated for single or few cell applications.

Keywords: mixture deconvolution; probabilistic genotyping; single-cell analysis.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

DNA / genetics
DNA Fingerprinting* / methods
Genotype
Likelihood Functions
Microsatellite Repeats* / genetics
Software

Substances

DNA

Grants and funding

The authors would like to thank the State of Florida for initial seed funding for this project. The funders had no role in study design; in the collection, analysis and interpretation of data; in the writing of the report; or in the decision to submit the article for publication.