Cihlar,J.C.; Amory,C.; Lagace,R.; Roth,C.; Parson,W.; Budowle,B.; For the adoption of massively parallel sequencing (MPS) systems by forensic laboratories, validation studies on specific workflows are needed to support the feasibility of implementation and the reliability of the data they produce. As such, the whole mitochondrial genome sequencing methodology-Precision ID mtDNA Whole Genome Panel, Ion Chef, Ion S5, and Converge-has been subjected to a variety of developmental validation studies. These validation studies were completed in accordance with the Scientific Working Group on DNA Analysis Methods (SWGDAM) validation guidelines and assessed reproducibility, repeatability, accuracy, sensitivity, specificity to human DNA, and ability to analyze challenging (e. [Read More]

Cihlar,J.C.; Strobl,C.; Lagace,R.; Muenzler,M.; Parson,W.; Budowle,B.; Nuclear mitochondrial DNA segments (NUMTs) are generated via transfer of portions of the mitochondrial genome into the nuclear genome. Given their common origin, there is the possibility that both the mitochondrial and NUMT segments may co-amplify using the same set of primers. Thus, analysis of the variation of the mitochondrial genome must take into account this co-amplification of mitochondrial and NUMT sequences. The study herein builds on data from the study by Strobl et al. [Read More]

Gill,P.; Hicks,T.; Butler,J.M.; Connolly,E.; Gusmao,L.; Kokshoorn,B.; Morling,N.; vanOorschot,R.A.H.; Parson,W.; Prinz,M.; Schneider,P.M.; Sijen,T.; Taylor,D.; The value of the evidence depends critically on propositions. In the second of two papers intended to provide advice to the community on difficult aspects of evaluation and the formulation of propositions, we focus primarily on activity level propositions. This helps the court address the question of “How did an individual’s cell material get there?”. In order to do this, we expand the framework outlined in the first companion paper. [Read More]

Roewer,L.; Andersen,M.M.; Ballantyne,J.; Butler,J.M.; Caliebe,A.; Corach,D.; D’Amato,M.E.; Gusmao,L.; Hou,Y.; deKnijff,P.; Parson,W.; Prinz,M.; Schneider,P.M.; Taylor,D.; Vennemann,M.; Willuweit,S.; Forensic genetic laboratories perform a large amount of STR analyses of the Y chromosome, in particular to analyze the male part of complex DNA mixtures. However, the statistical interpretation of evidence retrieved from Y-STR haplotypes is challenging. Due to the uni-parental inheritance mode, Y-STR loci are connected to each other and thus haplotypes show patterns of relationship on the familial and population level. [Read More]

D’Amato,M.E.; Bodner,M.; Butler,J.M.; Gusmao,L.; Linacre,A.; Parson,W.; Schneider,P.M.; Vallone,P.; Carracedo,A.; Forensic Science International: Genetics and Forensic Science International: Reports communicate research on a variety of biological materials using genetics and genomic methods. Numerous guidelines have been produced to secure standardization and quality of results of scientific investigations. Yet, no specific guidelines have been produced for the ethical acquisition of such data. These guidelines summarize universally adopted principles for conducting ethical research on biological materials, and provide details of the general procedures for conducting ethical research on materials of human, animal, plant and environmental origin. [Read More]