Document Details

Document Type : Article In Journal 
Document Title :
More comprehensive forensic genetic marker analyses for accurate human remains identification using massively parallel DNA sequencing
More comprehensive forensic genetic marker analyses for accurate human remains identification using massively parallel DNA sequencing
Document Language : English 
Abstract : Background: 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. 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. 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. The remains were in an unmarked grave and there were no records or other metadata available regarding the identity of the individual. Due to the high throughput of MPS, a variety of biometric markers could be typed using a single sample. Results: Using MPS and suitable forensic genetic markers, more relevant information could be obtained from a limited quantity and quality sample. 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). The Y-chromosome (Y-STR, Y-SNP) and mtDNA profiles of the unidentified skeletal remains are consistent with the R1b and H1 haplogroups, respectively. Both of these haplogroups are the most common haplogroups in Western Europe. Ancestry-informative SNP analysis also supported European ancestry. The genetic results are consistent with anthropological findings that the remains belong to a male of European ancestry (Caucasian). Phenotype-informative SNP data provided strong support that the individual had light red hair and brown eyes. Conclusions: This study is among the first to genetically characterize historical human remains with forensic genetic marker kits specifically designed for MPS. 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. 
ISSN : 1471-2164 
Journal Name : BMC genomics 
Volume : 17 
Issue Number : 9 
Publishing Year : 1437 AH
2016 AD
Article Type : Article 
Added Date : Monday, July 17, 2017 


Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
Angie D. AmbersAmbers, Angie D.ResearcherDoctorate 
Jennifer D. ChurchillChurchill, Jennifer D.ResearcherDoctorate 
Jonathan L. KingKing, Jonathan L.ResearcherDoctorate 
Monika StoljarovaStoljarova, Monika ResearcherDoctorate 
Harrell Gill-KingGill-King, Harrell ResearcherDoctorate 
Mourad AssidiAssidi, Mourad ResearcherDoctorate 
Muhammad Abu-ElmagdAbu-Elmagd, Muhammad ResearcherDoctorate 
Abdelbaset BuhmeidaBuhmeida, Abdelbaset ResearcherDoctorate 
Bruce BudowleBudowle, Bruce ResearcherDoctorate 


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