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Measuring Rates of mtDNA Heteroplasmy and Assessing Transmission of Variants

NCJ Number
Date Published
December 2016
24 pages
This research project first established rates of heteroplasmy for the control region of the mtGenome through a massively parallel sequencing (MPS) analysis of 550 individuals of European ancestry, followed by the evaluation of the transmission of heteroplasmic sequence variants in three tissue types (blood and buccal cells and hair shafts) collected from multiple maternal lineages and, in one case, from an individual lineage across multiple generations.

Pipelines and software tools were developed for conducting a complete analysis of the data, which will be available to the forensic community before or at the end of the grant period. The researchers report that at least five publications will result from this project, with at least two additional papers directly tied to elements of the project. Each paper provides recommendations that the forensic community can use in developing best practices for implementing mtDNA MPS methods in their laboratories. The overall prediction of project researchers is that this project will have a significant impact on forensic mtDNA casework and the criminal justice system. Major sections of this report address the project's experimental design and methods, data analysis, findings, and criminal justice impact. Appended bibliography with 15 listings

Date Published: December 1, 2016