Validation of the Precision ID mtDNA Whole Genome Panel

Validation of the Precision ID mtDNA Whole Genome Panel in a worldwide lineage study

Strobl,C.; Churchill Cihlar,J.; Lagacé,R.; Wootton,S.; Roth,C.; Huber,N.; Schnaller,L.; Zimmermann,B.; Huber,G.; Hong,S.L.; Moura-Neto,R.; Silva,R.; Alshamali,F.; Souto,L.; Anslinger,K.; Egyed,B.; Jankova-Ajanovska,R; Casas-Vargas,A.; Usaquén,W.; Silva,D.; Barletta-Carrillo,C.; Tineo,D.H.; Vullo,C.; Würzner,R.; Xavier,C.; Gusmão,L.; Niederstätter,H.; Bodner,M.; Budowle,B.; Parson,W.

For evaluation of the Precision ID mtDNA Whole Genome Panel more than 500 samples were analyzed from 24 different populations of diverse phylogenetic backgrounds. Different forensically relevant tissues and DNA extraction methods were tested to assess the performance of the assay.

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Evaluation of the Precision ID Whole mtDNA Genome Panel

Evaluation of the Precision ID Whole mtDNA Genome Panel for forensic analyses

Strobl,C.; Eduardoff,M.; Bus,M.; Allen,M.; Parson,W.

Degraded samples require the use of short amplicons, which can be achieved using the Precision ID mtDNA Whole Genome Panel (Thermo Fisher Scientific, CA). This kit comprises 162 amplicons with an average targeted fragment size of 175 bp, suitable for most forensic samples. The selected samples were processed as routine forensic caseworks and yielded limited or no result with conventional Sanger Type Sequencing.

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Discerning the “identical”

Discerning the “identical”: unexpected mitogenome diversity behind the most common European mtDNA control region (D-loop) haplotype

Bodner,M.; Strobl,C.; Nagl,S.; Xavier,C.; Huber,G.; Cardinali,I.; Lancioni,H.; Semino,O.; Olivieri,A.; Gandini,F.; Achilli,A.; Torroni,A.; Parson,W.

The circular human mtDNA molecule, due to its specific From the 80 samples currently analyzed in this ongoing characteristics as maternally inherited lineage marker present project, 17 revealed additional CR polymorphism outside in a high copy number and stable against degradation, is a HVS-I and II and were thus excluded. Complete mito- vital tool in forensic and population genetics. The utility of this genome sequencing revealed 57 different haplotypes marker depends on the variation present in a population. The (thereof 52 unique) in the 63 remaining samples considered output of investigations is often restricted, as most data only identical from CR (including those previously published [6]). include (partial) sequence information from the non-coding ~1.1 kbp control region (CR) that displays highly condensed variation. However, many mtDNA lineages are poorly defined in CR with identical nucleotide variants observed on different haplogroup backgrounds across the mtDNA phylogeny.

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Forensic validation of the Precision ID mtDNA Whole Genome Panel

Forensic validation of the Precision ID mtDNA Whole Genome Panel Using the Ion Chef and the Ion S5 System

Strobl,C.; Schnaller,L.; Bodner,M.; Huber,G.; Zimmermann,B.; Chang,J.; Wootton,S.; Lagacé,R.; Parson,W.

In challenging cases where nuclear DNA markers fail to give adequate results, mitochondrial DNA can provide useful information especially when mitogenome sequencing is performed. Such degraded samples require the use of short amplicons, which can be achieved using the Precision ID mtDNA Whole Genome Panel (Thermo Fisher Scientific, CA). This kit allows sequencing the entire mitogenome using 162 amplicons with a maximum length of 175bp. The following study presents initial results from the developmental validation of the Precision ID kit processed with the Ion Chef Instrument and the Ion S5 System according to the manufacturer’s recommended protocol.

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Search, Align and Haplogroup

Search, Align and Haplogroup – improved forensic mtDNA analysis via EMPOP

Dür,A.; Huber,N.; Parson,W.

Mitochondrial DNA (mtDNA) databases continue to grow and simultaneously the value of information that can be derived from an mtDNA profile is increased by different population and dispersal studies of humankind. However, especially for forensic purposes, quality must become more important than quantity. Clerical errors, inconsistent nomenclature or an insufficient sequence length (not covering the complete control region) are observed most frequently in submitted datasets, illustrating the absolute need of analytical software tools to maintain standards that are required for forensic databases

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