The interpretation of single source and mixed DNA profiles

• Published in: Forensic science international : genetics Vol. 7; no. 5; pp. 516 - 528
• Main Authors: Taylor, Duncan, Bright, Jo-Anne, Buckleton, John
• Format: Journal Article
• Language: English
• Published: Netherlands 01.09.2013
• Subjects: Data Interpretation, Statistical; DNA - genetics; DNA - isolation & purification; DNA Fingerprinting - methods; DNA Fingerprinting - statistics & numerical data; Forensic Genetics - methods; Forensic Genetics - statistics & numerical data; Genetics, Population - methods; Genetics, Population - statistics & numerical data; Humans; Likelihood Functions; Markov Chains; Models, Genetic; Models, Statistical; Monte Carlo Method; Pathology; Forensic DNA interpretation; Low template DNA; Mixtures; Continuous models
• ISSN: 1872-4973; 1878-0326
• DOI: 10.1016/j.fsigen.2013.05.011

Abstract A method for interpreting autosomal mixed DNA profiles based on continuous modelling of peak heights is described. MCMC is applied with a model for allelic and stutter heights to produce a probability for the data given a specified genotype combination. The theory extends to handle any number of contributors and replicates, although practical implementation limits analyses to four contributors. The probability of the peak data given a genotype combination has proven to be a highly intuitive probability that may be assessed subjectively by experienced caseworkers. Whilst caseworkers will not assess the probabilities per se, they can broadly judge genotypes that fit the observed data well, and those that fit relatively less well. These probabilities are used when calculating a subsequent likelihood ratio. The method has been trialled on a number of mixed DNA profiles constructed from known contributors. The results have been assessed against a binary approach and also compared with the subjective judgement of an analyst.