Document Details

Document Type : Article In Journal 
Document Title :
Blind study evaluation illustrates utility of the Ion PGM™ system for use in human identity DNA typing
Blind study evaluation illustrates utility of the Ion PGM™ system for use in human identity DNA typing
 
Document Language : English 
Abstract : AIM: To perform a blind study to assess the capability of the Ion Personal Genome Machine® (PGM™) system to sequence forensically relevant genetic marker panels and to characterize unknown individuals for ancestry and possible relatedness. METHODS: Twelve genomic samples were provided by a third party for blinded genetic analysis. For these 12 samples, the mitochondrial genome and three PGM™ panels containing human identity single nucleotide polymorphisms (SNPs), ancestry informative SNPs, and short tandem repeats (STRs) were sequenced on the PGM™ system and analyzed. RESULTS: All four genetic systems were run and analyzed on the PGM™ system in a reasonably quick time frame. Completeness of genetic profiles, depth of coverage, strand balance, and allele balance were informative metrics that illustrated the quality and reliability of the data produced. SNP genotypes allowed for identification of sex, paternal lineage, and population ancestry. STR genotypes were shown to be in complete concordance with genotypes generated by standard capillary electrophoresis-based technologies. Variants in the mitochondrial genome data provided information on population background and maternal relationships. CONCLUSION: All results from analysis of the 12 genomic samples were consistent with sample information provided by the sample providers at the end of the blinded study. The relatively easy identification of intra-STR allele SNPs offered the potential for increased discrimination power. The promising nature of these results warrants full validation studies of this massively parallel sequencing technology and its further development for forensic data analysis. 
ISSN : 0353-9504 
Journal Name : Croatian Medical Journal 
Volume : 56 
Issue Number : 3 
Publishing Year : 1436 AH
2015 AD 
Article Type : Article 
Added Date : Tuesday, April 19, 2016 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
Jennifer D. ChurchillChurchill, Jennifer D.Investigator Jennifer.Churchill@unthsc.edu
Joseph ChangChang, Joseph Researcher  
Narasimhan RajagopalanRajagopalan, Narasimhan Researcher  
Sharon C. WoottonWootton, Sharon C.Researcher  
Chien-Wei ChangChang, Chien-Wei Researcher  
Robert LagacéLagacé, Robert Researcher  
Wenchi LiaoLiao, Wenchi Researcher  
Jonathan L. KingKing, Jonathan L.Researcher  

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