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Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
Extended guidelines for mtDNA typing of population data in forensic science
Walther Parson1, Hans-Jürgen Bandelt
1Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria. walther.parson@i-med.ac.at
Abstract:
Mitochondrial DNA analysis has become a vital niche in forensic science as it constitutes a powerful technique for low quality and low quantity DNA samples. For the forensic field it is important to employ standardized procedures based on scientific grounds, in order to have mtDNA evidence be accepted in court. Here, we modify and extend recommendations that were spelled out previously in the absence of solid knowledge about the worldwide phylogeny. Refinement of those earlier guidelines became necessary in regard to sample selection, amplification and sequencing strategies, as well as a posteriori quality control of mtDNA profiles. The notation of sequence data should thus reflect this growing knowledge.
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