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Updated: Nov 8, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
The importance of considering common sources of unknown DNA when evaluating findings given activity level
Duncan Taylor1, Luke Volgin2, Bas Kokshoorn3
1College of Science and Engineering, Flinders University, GPO Box 2100, Adelaide, SA 5001, Australia; Forensic Science SA, GPO Box 2790, Adelaide, South Australia 5001, Australia.
Abstract:
Evaluating forensic biological evidence considering activity level propositions is becoming more prominent around the world. In such evaluations it is common to combine results from multiple items associated with the alleged activities. The results from these items may not be conditionally independent, depending on the mechanism of cell/DNA transfer being considered and it is important that the evaluation takes these dependencies into account. Part of this consideration is to incorporate our understanding of prevalent DNA and of background DNA on objects and people, and how activities can lead to common sources of unknown DNA being deposited on items. We demonstrate a framework for evaluation of DNA evidence in such a scenario using Object-Oriented Bayesian Networks and apply it to a motivating case from South Australia.
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