A custom software solution for forensic mtDNA analysis of MiSeq data

Mitchell Holland; Jennifer McElhoe

doi:10.1016/j.fsigss.2015.09.242

A custom software solution for forensic mtDNA analysis of MiSeq data

Mitchell Holland, Jennifer McElhoe

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Abstract

The use of a next generation sequencing (NGS) approach for mitochondrial (mt) DNA analysis in forensic casework is imminent. A feature of the NGS approach is the ability to detect and report mtDNA heteroplasmy, which will significantly enhance the discrimination potential of the testing method. A single software solution that allows for robust and user-friendly analysis of NGS-derived mtDNA sequence is not readily available, especially when considering heteroplasmy. This communication outlines the desired features of a software package for forensic applications, and the progress made towards those aims with the development of a custom version of NextGENe^®.

Original language	English (US)
Pages (from-to)	e614-e616
Journal	Forensic Science International: Genetics Supplement Series
Volume	5
DOIs	https://doi.org/10.1016/j.fsigss.2015.09.242
State	Published - Dec 1 2015

All Science Journal Classification (ASJC) codes

Pathology and Forensic Medicine
Genetics

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10.1016/j.fsigss.2015.09.242

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title = "A custom software solution for forensic mtDNA analysis of MiSeq data",

abstract = "The use of a next generation sequencing (NGS) approach for mitochondrial (mt) DNA analysis in forensic casework is imminent. A feature of the NGS approach is the ability to detect and report mtDNA heteroplasmy, which will significantly enhance the discrimination potential of the testing method. A single software solution that allows for robust and user-friendly analysis of NGS-derived mtDNA sequence is not readily available, especially when considering heteroplasmy. This communication outlines the desired features of a software package for forensic applications, and the progress made towards those aims with the development of a custom version of NextGENe{\textregistered}.",

author = "Mitchell Holland and Jennifer McElhoe",

note = "Funding Information: The authors gratefully acknowledge the support of Jonathan Liu, John McGuigan and John Fosnacht from SoftGenetics for development of new versions of NextGENe {\textregistered} . This work was supported in part by grant 2014-DN-BX-K022 from the National Institute of Justice (NIJ). The points of view in this document are those of the authors and do not represent the official position or policies of the U.S. Department of Justice. Publisher Copyright: {\textcopyright} 2015 Elsevier Ireland Ltd",

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N2 - The use of a next generation sequencing (NGS) approach for mitochondrial (mt) DNA analysis in forensic casework is imminent. A feature of the NGS approach is the ability to detect and report mtDNA heteroplasmy, which will significantly enhance the discrimination potential of the testing method. A single software solution that allows for robust and user-friendly analysis of NGS-derived mtDNA sequence is not readily available, especially when considering heteroplasmy. This communication outlines the desired features of a software package for forensic applications, and the progress made towards those aims with the development of a custom version of NextGENe®.

AB - The use of a next generation sequencing (NGS) approach for mitochondrial (mt) DNA analysis in forensic casework is imminent. A feature of the NGS approach is the ability to detect and report mtDNA heteroplasmy, which will significantly enhance the discrimination potential of the testing method. A single software solution that allows for robust and user-friendly analysis of NGS-derived mtDNA sequence is not readily available, especially when considering heteroplasmy. This communication outlines the desired features of a software package for forensic applications, and the progress made towards those aims with the development of a custom version of NextGENe®.

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A custom software solution for forensic mtDNA analysis of MiSeq data

Abstract

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