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

Catherine M. Grgicak, Slim Karkar, Xia Yearwood-Garcia, Lauren E. Alfonse, Ken R. Duffy, Desmond S. Lun

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

Abstract

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.

Original languageEnglish (US)
Article number102296
JournalForensic Science International: Genetics
Volume47
DOIs
StatePublished - Jul 2020

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine
  • Genetics

Keywords

  • CEESIt
  • DNA mixtures
  • Forensic DNA
  • Likelihood ratios
  • NOCIt
  • Number of contributors

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