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Krawczak, M.

Publications and source records attributed to Krawczak, M..

2 recordsLinked to original sources

Use of the Elston-Stewart algorithm for the efficient calculation of exact pedigree-based Y-STR match probabilities

The formal assessment of a genetic match between a suspect and some biological trace material is one of the key tasks of forensic genetics, particularly in cases of sexual offence. The analysis of Y-chromosomal short tandem repeats (Y-STRs) has proven especially useful in this context. For a long time, however, calculating the probability of a perfect Y-STR profile match under the defense hypothesis that the suspect was not the trace donor posed a great challenge. This was due to the inherent uncertainty about the population of alternative donors, the so-called suspect population. We recently proposed to resolve this controversy by systematically favoring the suspect and considering his close male relatives as the suspect population. However, since the mathematical framework developed for this purpose was simulation-based, its practical application turned out increasingly difficult with increasing pedigree size. Here, we present an adaptation of the so-called Elston-Stewart algorithm, originally developed for the linkage analysis of human genetic diseases, to allow calculation of exact match probabilities in a time that scales linearly with pedigree size. The adapted algorithm was implemented in a publicly available software tool, and its correctness was verified by the comparison of its output with the correct, analytical results obtained for selected example pedigrees. The new implementation mostly outperforms the simulation-based solution, albeit with the important exception of Y-STRs present in multiple copies. Given the increasingly prominent role of such multicopy markers in forensic genetics, the complementary use of both approaches appears the most sensible strategy for the time being.

genetics↗

Are genetically defined "metapopulations" self-evident in YHRD?

In forensic genetics, the evidential value of a match between the Y-chromosomal short tandem repeat (Y-STR) profiles of a trace and a suspect is typically quantified by the frequency of the profile in a population database, particularly the Y-chromosomal Haplotype Reference Database (YHRD). However, for this approach of obtaining a match probability to be valid, the database population must be representative of all plausible alternative trace donors in a given case. Since appropriately defining such a suspect population can be difficult, YHRD highlights so-called metapopulations that comprise profiles from different, geographically dispersed populations with presumed shared ancestry. We investigated whether such metapopulations are self-evident in the current version of YHRD. To this end, we performed classical cluster analysis using allele dissimilarity as a measure of pairwise distance between Y-STR profiles. Our analyses revealed only a weak genetic structure in YHRD the extent of which was inversely proportional to the respective marker mutation rate. This suggests that YHRD cannot be divided into clearly distinguishable subgroups based solely on the genetic information it contains, at least not into subgroups that would correspond closely to the metapopulations highlighted in the database itself. If profile frequencies in metapopulations are to continue to be equated with match probabilities, then a clearer definition of metapopulations and a better justification of their use in forensics are needed.

genetics↗