SoftGenetics - Software PowerTools for Genetic Analysis


Application Notes

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Mutation Surveyor®

  • DNA Mutation and Methylation Quantification Application Note (PDF)
  • Heterozygous DNA INDEL Application Note (PDF)
  • NGRL Technology Assessment (PDF)
  • Sequence Assembly Application Note (PDF)
  • Somatic Mutation Detection Technical Note (PDF)
  • UPMC Validation Poster (PDF)
  • Genetic Diversity Application Note (PDF)
  • Hypervariable Mutation Detection (PDF)
  • Methylation Detection Application Note (PDF)
  • Mitochondrial DNA Sequence Analysis using Mutation Surveyor® Software (PDF)
  • Variant Knowledge Base with External Annotation (PDF)
  • User Management with Audit Trail (PDF)


  • Condensation Application Note (PDF)
  • Format Conversion Application Note (PDF)
  • Illumina SNP & INDEL Detection with NextGENe software (PDF)
  • SNP & INDEL Detection of SOLiD™ System Sequence Data with NextGENe (PDF)
  • SNP & Indel Detection of 454 Sequence Data with NextGENe (PDF)
  • Working with Mutation Scores in NextGENe software (PDF)
  • Working with Capture Data Application Note (PDF)
  • Working with Variant Comparison Tool Application Note (PDF)
  • Structural Variant Detection Application Note (PDF)
  • Merging Paired End Reads Application Note (PDF)
  • De novo Assembly Application Note (PDF
  • De novo Assembly of SOLiD Sequence Reads Application Note (PDF
  • Paired Read Assembly Application Note (PDF)
  • De Bruijn Assembly Application Note (PDF)
  • Whole Genome Application Note (PDF)
  • Transcriptome Analysis Application Note (PDF) 
  • RNA-Seq Analysis with NextGENe Software (PDF)
  • ChIP-Seq Analysis Application Note (PDF)
  • Processing IonTorrent Sequencing Data Application Note (PDF)
  • Amplicon Sequence Analysis of ION PGM data with NextGENe Application Note (PDF)
  • 16S Bacterial Identification Application Note (PDF)
  • Serial Analysis of Gene Expression (SAGE) Application Note (PDF)
  • Small RNA Application Note (PDF)
  • Bar-Coding Application Note (PDF)
  • Deep Sequencing Application Note (PDF)
  • Target Sequencing Analysis Application Note (PDF)
  • Alignment of Paired Read Application Note (PDF)
  • Human Identity Analysis Application Note (PDF)
  • Using NextGENe software's Pipeline Automation Tool (PDF)
  • Demultiplexing Illumina® MiSeq™ Data (PDF)
  • IonPGM PE Alignment (PDF)
  • Ion AmpliSeq  (PDF)
  • Ion CFTR Analysis (PDF)
  • Analyzing Sequence Data from GS GType Targeted Sequencing of Leukemia-Associated Genes using NextGENe® Software (PDF)
  • Finding Causative Mutation Candidates in Rare Disease Studies using NextGENe's Variant Comparison Tool (PDF)
  • NextGENe CNV Detection- Dispersion and HMM (PDF)
  • NextGENe Batch CNV - MLPA Replacement (PDF)
  • HLA Analysis with NextGENe® Software (PDF)
  • Working with Circular Reference Sequences in NextGENe® Software (PDF)
  • Somatic Mutation Analysis from Whole Exome Sequencing Data with NextGENe® Software (PDF)
  • Mutation Detection and CNV Analysis for Illumina Sequencing data from HaloPlex Target Enrichment Panels using NextGENe Software for Clinical Research (PDF)
  • NextGENe® Software Analysis of Solid Tumors and Hematological Cancers Using RainDance ThunderBolts™ NGS Panels (PDF)
  • NextGENe® Software Analysis Using the NEBNext Direct® Cancer Hotspot Panel (PDF)
  • Highly Sensitive Somatic Mutation Detection from Biopsy Samples with Deep Sequencing using NextGENe® Software (PDF)
  • Sensitive Aneuploidy Detection (SAD™) Tool (PDF)
  • Integrating NextGENe® Software with Pathway Studio for Differential Gene Expression and Biological Pathway Analysis (PDF)


  • Fragile X Application Note (PDF)
  • AneuploidyAnalysis GeneMarker software AppNote (PDF)
  • Capillary Tilling Application Note (PDF)
  • DatabaseSearching KinshipAnalysis App Note (PDF)
  • Genotype Merge Tool App Note (PDF)
  • GM Kinship Analysis Application Note (PDF)
  • Haplotype Analysis App Note (PDF)
  • MS-MLPA Application Note (PDF)
  • MLPA Application note (PDF)
  • New Technology Size Calling App Note (PDF)
  • LOH application note (PDF)
  • Microsatellite and Pedigree Technical Note (PDF)
  • AFLP® Application Note (PDF)
  • Yale AFLP Analysis comparison (PDF)
  • MLPA Luminex Application Note (PDF)
  • MSI Application Note (PDF)
  • SBE-SNaPshot™ Application Note (PDF)
  • SNPlex™ Application Note (PDF)
  • SNPWave® Application Note (PDF)
  • T-RFLP Application Note (PDF)
  • Trisomy Application Note (PDF)
  • Clustering Algorithms Application Note (PDF)
  • Analysis of MegaBACE™ Data with GeneMarker® Software Application Note (PDF)


  • Cell Line Authentication (PDF)
  • MixtureAnalysis with GeneMarkerHID (PDF)
  • Crime Scene Suspect Application Note (PDF)
  • Paternity Testing Application Note (PDF)
  • Missing Persons Identification Application Note (PDF)
  • Locus Specific Bracket (LSB) Application Note (PDF)
    Automated Contamination Check Tool in GeneMarker®HID Software (PDF)


  • AFLP® Analysis with JelMarker (PDF)
  • TILLING Application Note (PDF)
  • AFLP Analysis of gel images Application Note (PDF)

SoftGenetics - Software PowerTools for Genetic Analysis

SoftGenetics - Software PowerTools for Genetic Analysis






















SoftGenetics - Software PowerTools for Genetic Analysis

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