Estimating trace-suspect match probabilities for singleton Y-STR haplotypes using coalescent theory

• Published in: Forensic science international : genetics 2013-02, Vol.7 (2), p.264-271
• Main Authors: Andersen, Mikkel Meyer, Caliebe, Amke, Jochens, Arne, Willuweit, Sascha, Krawczak, Michael
• Format: Article
• Language: English
• Subjects: Chromosomes, Human, Y; Haplotypes; Humans; Microsatellite Repeats - genetics; Models, Genetic; Pathology; Probability
• ISSN: 1872-4973; 1878-0326
• DOI: 10.1016/j.fsigen.2012.11.004

Abstract Estimation of match probabilities for singleton haplotypes of lineage markers, i.e. for haplotypes observed only once in a reference database augmented by a suspect profile, is an important problem in forensic genetics. We compared the performance of four estimators of singleton match probabilities for Y-STRs, namely the count estimate, both with and without Brenner's so-called ‘kappa correction’, the surveying estimate, and a previously proposed, but rarely used, coalescent-based approach implemented in the BATWING software. Extensive simulation with BATWING of the underlying population history, haplotype evolution and subsequent database sampling revealed that the coalescent-based approach is characterized by lower bias and lower mean squared error than the uncorrected count estimator and the surveying estimator. Moreover, in contrast to the two count estimators, both the surveying and the coalescent-based approach exhibited a good correlation between the estimated and true match probabilities. However, although its overall performance is thus better than that of any other recognized method, the coalescent-based estimator is still computation-intense on the verge of general impracticability. Its application in forensic practice therefore will have to be limited to small reference databases, or to isolated cases of particular interest, until more powerful algorithms for coalescent simulation have become available.