Precision DNA Mixture Interpretation with Single-Cell Profiling

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...

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Autores principales:	Jianye Ge, Jonathan L. King, Amy Smuts, Bruce Budowle
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	DNA forensics DNA mixture mixture interpretation single-cell clustering algorithm number of contributors Genetics QH426-470
Acceso en línea:	https://doaj.org/article/f5881dea36c447b7927532a0a1ec68cc
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spelling	oai:doaj.org-article:f5881dea36c447b7927532a0a1ec68cc2021-11-25T17:40:11ZPrecision DNA Mixture Interpretation with Single-Cell Profiling10.3390/genes121116492073-4425https://doaj.org/article/f5881dea36c447b7927532a0a1ec68cc2021-10-01T00:00:00Zhttps://www.mdpi.com/2073-4425/12/11/1649https://doaj.org/toc/2073-4425Wet-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.Jianye GeJonathan L. KingAmy SmutsBruce BudowleMDPI AGarticleDNA forensicsDNA mixturemixture interpretationsingle-cellclustering algorithmnumber of contributorsGeneticsQH426-470ENGenes, Vol 12, Iss 1649, p 1649 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	DNA forensics DNA mixture mixture interpretation single-cell clustering algorithm number of contributors Genetics QH426-470
spellingShingle	DNA forensics DNA mixture mixture interpretation single-cell clustering algorithm number of contributors Genetics QH426-470 Jianye Ge Jonathan L. King Amy Smuts Bruce Budowle Precision DNA Mixture Interpretation with Single-Cell Profiling
description	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.
format	article
author	Jianye Ge Jonathan L. King Amy Smuts Bruce Budowle
author_facet	Jianye Ge Jonathan L. King Amy Smuts Bruce Budowle
author_sort	Jianye Ge
title	Precision DNA Mixture Interpretation with Single-Cell Profiling
title_short	Precision DNA Mixture Interpretation with Single-Cell Profiling
title_full	Precision DNA Mixture Interpretation with Single-Cell Profiling
title_fullStr	Precision DNA Mixture Interpretation with Single-Cell Profiling
title_full_unstemmed	Precision DNA Mixture Interpretation with Single-Cell Profiling
title_sort	precision dna mixture interpretation with single-cell profiling
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/f5881dea36c447b7927532a0a1ec68cc
work_keys_str_mv	AT jianyege precisiondnamixtureinterpretationwithsinglecellprofiling AT jonathanlking precisiondnamixtureinterpretationwithsinglecellprofiling AT amysmuts precisiondnamixtureinterpretationwithsinglecellprofiling AT brucebudowle precisiondnamixtureinterpretationwithsinglecellprofiling
_version_	1718412141659160576

Precision DNA Mixture Interpretation with Single-Cell Profiling

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