Validation of Probabilistic Genotyping Software for Single Cell STR Analysis
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 ident...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-03-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/14/3/674 |
| _version_ | 1797611572769587200 |
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| author | Kaitlin Huffman Jack Ballantyne |
| author_facet | Kaitlin Huffman Jack Ballantyne |
| author_sort | Kaitlin Huffman |
| collection | DOAJ |
| description | 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<sup>TM</sup> and EuroForMix, were successfully validated for single or few cell applications. |
| first_indexed | 2024-03-11T06:30:37Z |
| format | Article |
| id | doaj.art-fe668b1c6e9b4c2d92c1d60e2ade348c |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-11T06:30:37Z |
| publishDate | 2023-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-fe668b1c6e9b4c2d92c1d60e2ade348c2023-11-17T11:17:51ZengMDPI AGGenes2073-44252023-03-0114367410.3390/genes14030674Validation of Probabilistic Genotyping Software for Single Cell STR AnalysisKaitlin Huffman0Jack Ballantyne1Graduate Program in Chemistry, Department of Chemistry, University of Central Florida, Orlando, FL 32816-2366, USAGraduate Program in Chemistry, Department of Chemistry, University of Central Florida, Orlando, FL 32816-2366, USAProbabilistic 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<sup>TM</sup> and EuroForMix, were successfully validated for single or few cell applications.https://www.mdpi.com/2073-4425/14/3/674mixture deconvolutionprobabilistic genotypingsingle-cell analysis |
| spellingShingle | Kaitlin Huffman Jack Ballantyne Validation of Probabilistic Genotyping Software for Single Cell STR Analysis Genes mixture deconvolution probabilistic genotyping single-cell analysis |
| title | Validation of Probabilistic Genotyping Software for Single Cell STR Analysis |
| title_full | Validation of Probabilistic Genotyping Software for Single Cell STR Analysis |
| title_fullStr | Validation of Probabilistic Genotyping Software for Single Cell STR Analysis |
| title_full_unstemmed | Validation of Probabilistic Genotyping Software for Single Cell STR Analysis |
| title_short | Validation of Probabilistic Genotyping Software for Single Cell STR Analysis |
| title_sort | validation of probabilistic genotyping software for single cell str analysis |
| topic | mixture deconvolution probabilistic genotyping single-cell analysis |
| url | https://www.mdpi.com/2073-4425/14/3/674 |
| work_keys_str_mv | AT kaitlinhuffman validationofprobabilisticgenotypingsoftwareforsinglecellstranalysis AT jackballantyne validationofprobabilisticgenotypingsoftwareforsinglecellstranalysis |