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                            Library & Multimedia
 Resolution of mtDNA mixtures using a probe capture next generation sequencing system and custom analysis software
NCJ Number
              303132
Journal

*Forensic Science International Genetics Supplement Series* Volume: 7 Issue: 1 Dated: 2019 Pages: 658-660
Author(s)
          S. Shih;
                        et al
Date Published

2019
Length
              3 pages
Annotation
              To analyze crime-scene evidence with degraded DNA, this project designed a probe capture Next Generation Sequencing system for targeted enrichment for both nuclear SNP markers and for the entire mitochondrial DNA genome.
Abstract
              This probe capture NGS system was used to capture and sequence both nuclear SNPs and mtDNA markers from the same DNA shotgun library. Version 1 of the SNP panel (SNPv1.0; 451 SNPs) includes identity informative, ancestry informative, phenotypic informative, haploid chromosomal, tri-and tetra-allelic and microhaplotype SNPs. Version 2 of the SNP panel (SNPv2.0; 436 SNPs) includes the same categories of SNPs as those present in version 1 of the panel with the exclusion of phenotypic informative SNPs. These two probe panels, along with the study’s whole mitochondrial genome probe panel, were used to analyze mixtures using DNA from control cell lines, simulated biological evidence samples, and study subjects. The sequence data were analyzed with NextGENe®, GeneMarker®HTS software and, for the mtDNA sequences, with the phylogenetics based software Mixemt. The probe capture NGS system can capture and sequence fragments as short as 35 bp. For the SNP panel, the minor contributor could be detected down to a 2.5 percent minor contribution with a 1 ng DNA input. Using the Mixemt software for the analysis of mtDNA mixtures, researchers were able to detect the minor contributor as low as 0.31 percent. Moreover, Mixemt could de-convolute three-person mixtures, as well as two-person mixtures with similar proportions. (publisher abstract modified)
      
  
          Additional Details
Grant Number(s)
        2013-MU-MU-K044


  
  
        
  Agencies
        NIJ-Sponsored


  
  
        
  Award
        Development of Probe Capture Next-Generation Sequencing Assays for Degraded DNA
    
  
  
Date Published: January 1, 2019
    
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        Single nucleotide polymorphism (SNP)
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