Development of an Expert System for Automated Forensic Mitochondrial DNA Data Analysis

• NCJ Number: 239675
• Author(s): Rhonda K. Roby, Ph.D., M.P.H.; Nicole R. Phillips, M.S.; Jennifer L. Thomas, M.S.; Marc L. Sprouse
• Date Published: September 2012
• Length: 130 pages
• Grant Number(s): 2009-DN-BX-K171
• Agencies: NIJ-Sponsored
• Publication Type: Report (Study/Research)

Annotation

The goal of this research was to reduce the review time of mitochondrial DNA (mtDNA) sequence analysis by using advanced expert system tolls, while also decreasing subjectivity and error in haplotype reporting.

Abstract

The project's objective was to create an expert system process that would review and parse raw sequence data, including and improving an advanced sequence analysis program that would expand automation of the routine and repetitive tasks in the interpretation of mtDNA sequence analysis. A team at the University of North Texas Health Science Center (UNTHSC) identified several steps in the analysis of mtDNA that can significantly reduce labor involved in data reviews. A reduction in labor and processing time improves efficiency and increases the overall capacity of mtDNA processing by a laboratory. Tools for reducing mtDNA processing time included software development for two new programs (eFAST Software v2.0, UNTHSC and STATIS) as well as enhancement to an existing advanced software data analysis package (Mtexpert, MitoTech, LLC, Santa Fe, NM). The research design involved having regular communication with the scientific staff and the software developers for the purpose of improving the overall streamlining process for the expert system software program, so as to rapidly test any new software versions. Further, MTexpert Software has a standard set of base calling rules known as MitoTyper Rules, integrated into its software. These rules and the new expert system tools were tested by UNTHSC with its sequence data. With MTexpert, scientists can edit the mtDNA sequences traces, review the assembly, and evaluate each polymorphism with dynamic links from the traces' base calls through the assembly to the type entries. With the three software programs linked contiguously, mtDNA sequence data can be evaluated quicker, with less error, and generate a haplotype report. 35 figures and a listing of project presentations and posters