Document Details

Document Type : Article In Journal 
Document Title :
Massively parallel sequencing of 68 insertion/deletion markers identifies novel microhaplotypes for utility in human identity testing
Massively parallel sequencing of 68 insertion/deletion markers identifies novel microhaplotypes for utility in human identity testing
Document Language : English 
Abstract : Short tandem repeat (STR) loci are the traditional markers used for kinship, missing persons, and direct comparison human identity testing. These markers hold considerable value due to their highly polymorphic nature, amplicon size, and ability to be multiplexed. However, many STRs are still too large for use in analysis of highly degraded DNA. Small bi-allelic polymorphisms, such as insertions/deletions (INDELs), may be better suited for analyzing compromised samples, and their allele size differences are amenable to analysis by capillary electrophoresis. The INDEL marker allelic states range in size from 2 to 6 base pairs, enabling small amplicon size. In addition, heterozygote balance may be increased by minimizing preferential amplification of the smaller allele, as is more common with STR markers. Multiplexing a large number of INDELs allows for generating panels with high discrimination power. The NexteraTM Rapid Capture Custom Enrichment Kit (Illumina, Inc., San Diego, CA) and massively parallel sequencing (MPS) on the Illumina MiSeq were used to sequence 68 well-characterized INDELs in four major US population groups. In addition, the STR Allele Identification Tool: Razor (STRait Razor) was used in a novel way to analyze INDEL sequences and detect adjacent single nucleotide polymorphisms (SNPs) and other polymorphisms. This application enabled the discovery of unique allelic variants, which increased the discrimination power and decreased the single-locus random match probabilities (RMPs) of 22 of these well-characterized INDELs which can be considered as microhaplotypes. These findings suggest that additional microhaplotypes containing human identification (HID) INDELs may exist elsewhere in the genome. 
ISSN : 1872-4973 
Journal Name : Forensic Science International: Genetics 
Volume : 25 
Issue Number : 1 
Publishing Year : 1437 AH
2016 AD
Article Type : Article 
Added Date : Monday, July 17, 2017 


Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
Frank R. WendtWendt, Frank R.Researcher  
David H. WarshauerWarshauer, David H.ResearcherDoctorate 
Xiangpei ZengZeng, Xiangpei ResearcherDoctorate 
Jennifer D. ChurchillChurchill, Jennifer D.ResearcherDoctorate 
Nicole M. NovroskiNovroski, Nicole M.ResearcherMaster 
Bing SongSong, Bing Researcher  
Jonathan L. KingKing, Jonathan L.ResearcherMaster 
Bobby L. LaRueLaRue, Bobby L.ResearcherDoctorate 
Bruce BudowleBudowle, Bruce ResearcherDoctorate 


File NameTypeDescription
 42014.pdf pdf 

Back To Researches Page