SoftGenetics - Software PowerTools for Genetic Analysis






Forensic STR (Autosomal and Y-STR) Analysis of Genotypes and SNPs

High throughput sequencing of STRs and Y-STRs provides both allele calls and sequence variants. Identifying SNPs in STRs is new in the field of forensics. The resulting iso-alleles (a locus that appears homozygous in length-based measurements such as CE, but is heterozygous by sequence) can aid in identification of individuals and relatives in single source samples and has the potential for improving the assignment of alleles to contributors during the analysis of mixtures.


High-throughput sequencing data for forensic applications such as, STRs, Y-STRs, mtDNA, or all three simultaneously, can be analyzed by selecting a built-in panel (Promega PowerSeq chemistries) or by loading a panel for custom chemistries. Autosomal and Y-STR analysis includes conventional forensic nomenclature and is concordant with CE genotyping results. Contact for a copy of the concordance study.


Learn more: BrochureConcordance study


GeneMarkerHTS software capabilities include simultaneous analysis and reporting of mtDNA and STR chemistries. Review and save reports for the different data types -- no need to scroll through pages of results to locate the area(s) of interest.

STR Analysis Screen

Figure 1: The STR Analysis screen has histograms and a Results Table. The histograms show the depth of coverage for each marker, with any iso-alleles being represented by a different color. The Results Table includes columns for the allele name, forward counts, reverse counts, total counts, and sequence.

Visualization of Iso-Alleles

Figure 2: Example of an iso-allele, which is a locus that appears homozygous in length-based measurements (such as CE), but is heterozygous by sequence.


User Management – History Viewer

Figure 3: The database provides password protected access rights, audit trail and allows users to upload/download projects with the initial analysis parameters and upload/download changes to analysis parameters of subsequent analysts. Additionally, the database provides a record of all analysis parameters and activities on a data set.


Minimum Recommended processing hardware: 64-bit Windows OS 12 GB RAM 2.4GHz Dual Quad Core Processor

Read Articles:
Forensic Science International: Genetics Articles
Evaluation of GeneMarkerHTS for improved alignment of mtDNA MPS data, haplotype determination, and heteroplasmy assessment. Mitchell M. Holland, Erica D. Pack, Jennifer A. McElhoe. Forensic Science International: Genetics 28 (2017) 90–98. (Read the article)

Characterization of NIST Human Mitochondrial DNA SRM-2392 and SRM-2392-I Standard Reference Materials by Next Generation Sequencing. Sarah Riman, Kevin M. Kiesler, Lisa A. Borsuk, Peter M. Vallone. Forensic Science International: Genetics (Read the article)

Harnessing the Power of Massively Parallel Sequencing in Forensic Analysis: Validation of PowerSeq™ CRM Nested System data with GeneMarker®HTS software - by Dr. Seth Faith's group (Battelle and Ohio BCI) (Read the article)


Read the International Journal of Legal Medicine Article
Download/View GeneMarker®HTS Software Brochure

SoftGenetics - Software PowerTools for Genetic Analysis


  • Mitochondrial DNA Analysis
  • Autosomal and Y-STR Genotypes and SNPs

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