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Estimating Trace-Suspect Match Probabilities for Singleton Y-STR Haplotypes Using Coalescent Theory

NCJ Number
246371
Journal
Forensic Science International: Genetics Volume: 7 Issue: 2 Dated: February 2013 Pages: 264-271
Author(s)
Mikkel Meyer Andersen; Amke Caliebe; Arne Jochens; Sascha Willuweit; Michael Krawczak
Date Published
February 2013
Length
8 pages
Annotation
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.
Abstract
Researchers 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. (Published Abstract)