Overview

GeneMarkerHTS (High Throughput Sequence) Forensic NGS Analysis Software is designed to provide a validated, streamlined workflow for forensic mitochondrial, STR, and Y-STR casework, as well as medical research of mitochondrial DNA. The software supports data from massively parallel sequencing (MPS) platforms, including Illumina and Ion Torrent, and operates on an easy-to-use Windows operating system. GeneMarkerHTS is optimized for forensic and medical applications, offering rapid analysis of multiple samples using consensus and motif alignments. Developed in collaboration with leading forensic and medical laboratories, GeneMarkerHTS automates the requirements set by The DNA Commission of the International Society for Forensic Genetics, fulfilling forensic alignment recommendations. The software provides recognition and proper assignment of motifs and indels consistent with phylogenetic and forensic considerations. It includes three alignment algorithms to best suit the analysis needs: initial alignment to a reference genome (Revised Cambridge Reference Sequence is preloaded), adjustment with motifs to ensure alignment is consistent with forensic variant reporting, and consensus alignment to improve alignment around indels.

Features

• Platform Compatibility: Supports data from Illumina® and Ion Torrent® MPS platforms.
• Automated Analysis: Automates forensic alignment requirements, reducing manual edits and improving accuracy.
• Alignment Algorithms: Includes initial alignment to a reference genome, motif adjustment, and consensus alignment.
• Forensic Nomenclature: Provides forensic nomenclature for STR and Y-STR analysis.
• Comprehensive Reporting: Offers customizable viewing and reporting options to protect privacy of personal health information (PHI).
• Profile Comparison: Facilitates comparison of multiple samples in a single view.
• Rapid Analysis: Delivers results in minutes, with high throughput capabilities.
• Audit Trail: Includes audit trail capability and user management.