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                            Library & Multimedia
 MMDIT: A tool for the deconvolution and interpretation of mitochondrial DNA mixtures
NCJ Number
              303542
Journal

*Forensic Science International: Genetics* Volume: 55 Dated: November 2021
Author(s)
          Sammed N. Mandapea;
                        Utpal Smart;
                        Jonathan L. King;
                        Melissa Muenzler;
                        Kapema Bupe Kapema;
                        Bruce Budowle;
                        August E.Woerner
Date Published

November 2021
Annotation
              Since there are only a few software tools available for mtDNA mixture interpretation, the current project addressed this gap by developing the Mitochondrial Mixture Deconvolution and Interpretation Tool (MMDIT).
Abstract
              Short tandem repeats of the nuclear genome have been the preferred markers for analyzing forensic DNA mixtures; however, when nuclear DNA in a sample is degraded or limited, mitochondrial DNA (mtDNA) markers provide a powerful alternative. Although historically considered challenging, the interpretation and analysis of mtDNA mixtures have recently received renewed interest with the advent of massively parallel sequencing. The MMDIT developed in the current project is an interactive application complete with a graphical user interface that enables users to deconvolve mtDNA (whole or partial genomes) mixtures into constituent donor haplotypes and estimate random match probabilities on these resultant haplotypes. In cases where deconvolution might not be feasible, the software enables mixture analysis directly within a binary framework (i.e., qualitatively, only using data on allele presence/absence). This article explains the functionality of MMDIT, using an example of an in vitro two-person mtDNA mixture with a ratio of 1:4. The uniqueness of MMDIT lies in its ability to resolve mixtures into complete donor haplotypes using a statistical phasing framework before mixture analysis and evaluating statistical weights employing a novel graph algorithm approach. MMDIT is the first available open-source software that can automate mtDNA mixture deconvolution and analysis. The MMDIT web application can be accessed online at https://www.unthsc.edu/mmdit/. The source code is available at https://github.com/SammedMandape/MMDIT_UI and archived on zenodo (https://doi.org/10.5281/zenodo.4770184). (publisher abstract modified)
      
  
          Additional Details
Grant Number(s)
        2017-DN-BX-0134


  
  
        
  Agencies
        NIJ-Sponsored


  
  
        
  Publication Type
        Research (Applied/Empirical)


  
  
        
  Award
        Development of a Mitochondrial Mixture Database and Interpretation Tool
    
  
  
Date Published: November 1, 2021
    
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