Abstract
Massive parallel sequencing (MPS) continues to receive increasing interest in the forensic community, among other things because it allows for more markers than other technologies and an increased resolution of the STR (short tandem repeat) regions. For evidential weight calculations, estimates of each compositional variant of an allele (isoalleles) needs to be estimated. Some isoalleles may not be present in the used reference database, but they may still exist in the population. We present a statistical model for estimating isoallele frequencies based on MPS data. We demonstrate our approach on the D12S391 marker included in the Illumina ForenSeq multiplex. Based on a single step mutation model, we link the isoalleles across the varying allele lengths to estimate underlying parameters used to predict the isoallelic frequencies, both those observed in the reference database and unobserved isoalleles.
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