SoftGenetics, LLC. software

Mutation Surveyor software includes patented anti-correlation technology, which physically compares sample sequence traces to a reference trace, providing accuracy up to 99.5% with Phred 20 bi-directional sequences and a sensitivity of 5% of the primary peak.

NextGENe software is the perfect analytical partner for the analysis of desktop sequencing data produced by Illumina® iSeq, Miniseq, MiSeq, NextSeq, HiSeq, and NovaSeq systems, Ion Torrent Ion GeneStudio S5, PGM, and Proton systems as well as other platforms. NextGENe software runs on a Windows® Operating System, which provides a biologist-friendly ‘point & click’ interface. It does not require scripting or other bioinformatics support, which are often required when using programs such as CLC Genomics Workbench, Lasergene`s SeqMan Pro, as well as academic software such as MAQ & SOAP, Top Hat, BWA & Bowtie.

NextGENeLR Software is an effective and easy-to-use resource for the analysis of long read sequencing data such as data from Pacific Biosciences RS, RSII, Sequel, and Sequel II systems, as well as Oxford Nanopore MinION. NextGENeLR can be used for structural variation detection, STR expansion analysis, and whole genome mitochondrial DNA analysis, including low frequency SNV and indel detection, structural variation detection, and mitochondrial haplotyping, with support for mixed samples. Analyses can be set up using an intuitive interface which facilitates batch processing of a number of samples. Recent enhancements to instruments such as PACBIO® and Oxford Nanopore Technologies have improved accuracy to as much as 98%.

Variant Interpretation * Variant Tracking * Coverage Confirmation Save Time & Resources * Compatible with data from all NGS systems * Targeted Panels and Whole Exome Sequencing. Developed in collaboration with the Laboratory Medicine, Information Technology, and Health Science Research departments of Mayo Clinic, Geneticist Assistant NGS Interpretative Workbench is a unique tool for the management, control, visualization, functional interpretation, and knowledge database of next-generation sequencing whole exome data for the purpose of identifying pathogenic variants. Geneticist Assistant may also be used to target specific gene panels.

ChimeRMarker® automated chimerism analysis software integrates speed and accuracy with a biologist-friendly interface. The software can be used to monitor chimerism level in both an allogeneic stem cells transplant (SCT) or a hematopoietic stem cells transplant (HSCT), bone marrow transplant (BMT, post bone marrow engraftment), and cord and peripheral blood stem cells transplant (PBSCT) samples.

GeneMarker®MTP software provides the analysis power of six GeneMarker programs; reducing costs while increasing efficiency of DNA fragment analysis. The automated import and assignment of analysis parameters (templates) is intuitive, reducing complexity and analysis time. GeneMarker MTP maximizes the utility of a CE plate - include up to 6 different chemistries on the same plate.

GeneMarker®HID human identity software is an excellent choice for all forensic profiling applications. This expert system software can be employed as a "biologist-friendly" replacement for GeneScan®/GenoTyper® or as an alternative to GeneMapper® ID and GeneMapper® IDX human identification software, reducing analyst required edits by 18-73% per sample.

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.

MaSTR™ Enlightened Probabilistic Mixture Analysis Software. MaSTR software features a rapid and transparent approach to Probabilistic Mixture Analysis which utilizes your forensic acumen in an easy-to-use Windows® environment for research, validation and casework applications. Server based MaSTR software is very cost effective, includes two simultaneous user licenses, and automatic queuing of multiple analyses.

GeneMarker® software is unique genotype analysis software which integrates new technologies that enhance speed, accuracy and ease of analyses. The biologist-friendly software is an excellent alternative to: Applied BioSystems GeneMapper® software, or MRC Holland`s Coffalyser.Net software. GeneMarker software is compatible with output files from all major sequencing systems, including ABI®PRISM, Applied Biosystems SeqStudio™, and Promega Spectrum Compact CE Systems genetic analyzers, as well as custom primers or commercially available 4-6 dye chemistries. GeneMarker software`s Windows® based operation simplifies analyses for clinical and basic research in agriculture/wildlife applications. GeneMarker software is compatible with Windows® Operating Systems that are within Microsoft Extended Support.