In mass disasters, missing persons cases, or cases involving historical/archaeological remains, sometimes there are no clues as to the person’s potential identity and/or there are no associations made with a reference sample or reference pedigree via a database search. However, reference samples must be available for comparison for these markers to be informative. A variety of genetic markers can be used to achieve identification, including highly polymorphic autosomal short tandem repeat (STR) loci and lineage markers.

The paramount goal of forensic DNA testing of human skeletal remains is identification of the unknown individual. The outcome demonstrates that substantially more genetic information can be obtained from the same initial quantities of DNA as that of current CE-based analyses. This study is among the first to genetically characterize historical human remains with forensic genetic marker kits specifically designed for MPS. Phenotype-informative SNP data provided strong support that the individual had light red hair and brown eyes. The genetic results are consistent with anthropological findings that the remains belong to a male of European ancestry (Caucasian). Ancestry-informative SNP analysis also supported European ancestry. Both of these haplogroups are the most common haplogroups in Western Europe. The Y-chromosome (Y-STR, Y-SNP) and mtDNA profiles of the unidentified skeletal remains are consistent with the R1b and H1 haplogroups, respectively. Results were obtained for 25/26 Y-STRs, 34/34 Y SNPs, 166/166 ancestry-informative SNPs, 24/24 phenotype-informative SNPs, 102/102 human identity SNPs, 27/29 autosomal STRs (plus amelogenin), and 4/8 X-STRs (as well as ten regions of mtDNA). Using MPS and suitable forensic genetic markers, more relevant information could be obtained from a limited quantity and quality sample.

Due to the high throughput of MPS, a variety of biometric markers could be typed using a single sample. The remains were in an unmarked grave and there were no records or other metadata available regarding the identity of the individual. In this study, MPS was used to characterize 140-year-old human skeletal remains discovered at a historical site in Deadwood, South Dakota, United States. Massively parallel sequencing (MPS) offers an opportunity to provide biometric data in such cases, and these cases provide valuable data on the feasibility of applying MPS for characterization of modern forensic casework samples. Although the primary objective of forensic DNA analyses of unidentified human remains is positive identification, cases involving historical or archaeological skeletal remains often lack reference samples for comparison.

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