A large-scale validation of NOCIt's a posteriori probability of the number of contributors and its integration into forensic interpretation pipelines.


Journal

Forensic science international. Genetics
ISSN: 1878-0326
Titre abrégé: Forensic Sci Int Genet
Pays: Netherlands
ID NLM: 101317016

Informations de publication

Date de publication:
07 2020
Historique:
received: 07 05 2019
revised: 26 03 2020
accepted: 27 03 2020
pubmed: 28 4 2020
medline: 6 7 2021
entrez: 28 4 2020
Statut: ppublish

Résumé

Forensic DNA signal is notoriously challenging to interpret and requires the implementation of computational tools that support its interpretation. While data from high-copy, low-contributor samples result in electropherogram signal that is readily interpreted by probabilistic methods, electropherogram signal from forensic stains is often garnered from low-copy, high-contributor-number samples and is frequently obfuscated by allele sharing, allele drop-out, stutter and noise. Since forensic DNA profiles are too complicated to quantitatively assess by manual methods, continuous, probabilistic frameworks that draw inferences on the Number of Contributors (NOC) and compute the Likelihood Ratio (LR) given the prosecution's and defense's hypotheses have been developed. In the current paper, we validate a new version of the NOCIt inference platform that determines an A Posteriori Probability (APP) distribution of the number of contributors given an electropherogram. NOCIt is a continuous inference system that incorporates models of peak height (including degradation and differential degradation), forward and reverse stutter, noise and allelic drop-out while taking into account allele frequencies in a reference population. We established the algorithm's performance by conducting tests on samples that were representative of types often encountered in practice. In total, we tested NOCIt's performance on 815 degraded, UV-damaged, inhibited, differentially degraded, or uncompromised DNA mixture samples containing up to 5 contributors. We found that the model makes accurate, repeatable and reliable inferences about the NOCs and significantly outperformed methods that rely on signal filtering. By leveraging recent theoretical results of Slooten and Caliebe (FSI:G, 2018) that, under suitable assumptions, establish the NOC can be treated as a nuisance variable, we demonstrated that when NOCIt's APP is used in conjunction with a downstream likelihood ratio (LR) inference system that employs the same probabilistic model, a full evaluation across multiple contributor numbers is rendered. This work, therefore, illustrates the power of modern probabilistic systems to report holistic and interpretable weights-of-evidence to the trier-of-fact without assigning a specified number of contributors or filtering signal.

Identifiants

pubmed: 32339916
pii: S1872-4973(20)30069-7
doi: 10.1016/j.fsigen.2020.102296
pii:
doi:

Substances chimiques

DNA 9007-49-2

Types de publication

Journal Article Research Support, U.S. Gov't, Non-P.H.S. Validation Study

Langues

eng

Sous-ensembles de citation

IM

Pagination

102296

Informations de copyright

Copyright © 2020 Elsevier B.V. All rights reserved.

Auteurs

Catherine M Grgicak (CM)

Department of Chemistry, Rutgers University, Camden, NJ, 08102, USA; Center for Computational and Integrative Biology, Rutgers University, Camden, NJ, 08102, USA. Electronic address: c.grgicak@rutgers.edu.

Slim Karkar (S)

Center for Computational and Integrative Biology, Rutgers University, Camden, NJ, 08102, USA.

Xia Yearwood-Garcia (X)

Biomedical Forensic Sciences Program, Boston University School of Medicine, Boston, MA, 02118, USA.

Lauren E Alfonse (LE)

Biomedical Forensic Sciences Program, Boston University School of Medicine, Boston, MA, 02118, USA.

Ken R Duffy (KR)

Hamilton Institute, Maynooth University, Ireland.

Desmond S Lun (DS)

Center for Computational and Integrative Biology, Rutgers University, Camden, NJ, 08102, USA; Department of Computer Science, Rutgers University, Camden, NJ, 08102, USA; Department of Plant Biology, Rutgers University, New Brunswick, NJ, 08901, USA.

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