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First Commercially Available Software for Forensic Mitochondrial Analysis from NGS Reads now available from SoftGenetics

January 26, 2017, State College PA - SoftGenetics announced the availability of its new GeneMarkerHTS software for analysis of the Mitochondrial Genome for Forensic and Clinical Research applications from High Throughput Sequencing systems.  GeneMarkerHTS is believed to be the first commercially available software developed exclusively for analysis of NGS Mitochondrial sequencing, is applicable in many cases including mass disaster, missing person, as well as clinical disease research and forensic anthropology applications.

Developed in collaboration with Dr. Mitchell Holland, Associate Professor of Biochemistry and Molecular Biology, and Dr Jennifer A Mc Elhoe, Research Associate, both of Penn State University’s Forensic Program, as well as other involved forensic and clinical research groups.

GeneMarker®HTS software provides a streamlined workflow for forensic and medical research mitochondrial DNA data analysis from Next Generation Sequencing (NGS) systems such as the Illumina® and Ion Torrent® platforms; in an easy to use Windows® operating system. Developed in collaboration with leading laboratories, GeneMarkerHTS software provides rapid analysis of multiple samples using consensus alignment or a unique motif alignment technology spanning the origin.

The software aligns data to a reference and includes a unique “motif” alignment algorithm that automates the recommendations of the DNA Commission of the International Society for Forensic Genetics for recognition and proper assignment of motifs and INDELs consistent with phylogenetic and forensic considerations. Additional features include consensus alignment for optimized detection of INDELS, discovering variants, including SNPs, Indels, and heteroplasmy, IUPAC nomenclature, many reporting options in a highly Easy‐to‐use Windows® user interface.

The software also includes quick export to EMPOP, (EDNAP mtDNA Population Database), user management, audit trail capabilities, synchronized comparison of multiple samples, as well as customizable viewing and reporting to protect health information.

Dr. Holland states: “It was a pleasure working with the team at SoftGenetics to help develop GeneMarker HTS.  The software will make it easier for crime laboratories around the world to adopt a massively parallel sequencing approach to mtDNA analysis.  In doing so, those labs will have an opportunity to begin reporting on the analysis of mtDNA heteroplasmy in their cases, enhancing the weight of the results.  Our laboratory at Penn State has been studying rates of low‐level heteroplasmy in population groups, and how heteroplasmic variants drift between people and tissue types, and have used GeneMarker HTS to analyze our data sets.  The software is accurate, includes useful reporting tools, and is easy to use.”


Interested parties can find additional information on GeneMarkerHTS and request no cost trials via [email protected]

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