Medical software GeneMarker®HTS

for DNA sequencinganalysisfor control

GeneMarker®HTS software provides a validated streamlined workflow for forensic mitochondrial , STR, and Y-STR casework as well as medical research of mitochondrial DNA from massively parallel squencing platforms (MPS) - such as the Illumina® and Ion Torrent® - in an easy-to-use Windows® operating system. GeneMarkerHTS (High Through-put Sequence) Forensic Analysis Software for data from Next Generation Sequence (NGS), Massively Parallel Sequencing (MPS) platforms, including Illumina® and Ion Torrent® Mitochondrial DNA Analysis Whole Genome, HVI/HVII and control region analysis Unique Alignment Technology ∙ Motif Consensus Forensic Nomenclature Easy Upload to EMPOP STR Analysis Autosomal & Y-STR Forensic Nomenclature Genotype & SNP Reporting Concordant Validated Easy-to-Use Windows® Interface Compatible with major Chemistries & Platforms Audit Trail & User Control Comprehensive Reporting Options GeneMarkerHTS software includes: Audit trail capability User management Customizable viewing and reporting to protect privacy of personal health information (PHI) Profile Comparison Capabilities Upload to EMPOP Rapid Analysis – get results in minutes mtDNA: 30 MiSeq whole mtDNA chromosome data files with 10,000 average depth of coverage were aligned in 90 minutes (3 minutes per sample). 200 whole mtDNA chromosome data files with 10,000 average depth of coverage aligned in 16 hours. STR/Y-STR GeneMarker HTS software results were 99.74% concordant with the CE allele calls of 20,000 sampled GeneMarker loci. Samples allele calls and iso-alleles