SoftGenetics - Software PowerTools for Genetic Analysis






Prediction and Rare Disease Discovery

In collaboration with researchers at the NIH, SoftGenetics has developed a biologist and geneticist-friendly tool designed to speed up and simplify the discovery of causative mutations. Sequencing the exomes of a small family or several individuals with similar phenotypes can result in a list of hundreds of thousands of possible mutations.

The NextGENe Variant Comparison and prediction database tool makes it easy to narrow down the found variation list based on several levels of criteria:

  • Expected genotype - including control samples and inheritance patterns
  • Annotated gene information - exons, coding sequences, splice sites, etc
  • Database information -dbSNP, COSMIC, NHLBI GO Exome Sequencing Project (ESP), custom databases
  • Functional Prediction - dbNSFP (including 1000 genomes frequencies, PolyPhen2, SIFT, PhyloP and more)
  • Type of mutation - Indels or Substitutions (Silent, Missense, or Nonsense)
  • Inclusive and Exclusive region of interest (ROI) filtering
  • Mutation confidence score filtering


Figure 1: In this family of 6, with two affected children, the exomes of the entire family- mother, father, two unaffected and the two affected children were sequenced. The nearly 280,000 shared variants were quickly reduced by the NextGENe variant comparison tool allowing geneticists to quickly ascertain potential causative mutations.


For More Information Review or Download Application notes:
Finding Causative Mutation Candidates from NGS Sequencing
Processing Ion PGM™ Sequencing Data with NextGENe Software
Processing Ion AmpliSeq™ Cancer Panel Data using NextGENe® Software
NextGENe Illumina SNP_Indel_Detection
Structural Variant Analysis
NextGENe software Variant Comparison Tool
Mutation Confidence Scoring with NextGENe software
NextGENe SNP & Indel Viewer
Deep Sequence Analysis with NextGENe software
Whole Genome Alignment with NextGENe software
Sequence Capture Analysis with NextGENe software
Using NextGENe software's Pipeline Automation Tool



Family and Rare Disease Analysis with the Variant Comparison Tool of NextGENe software (View on )


Pricing & Trial Version:
Request 30-day trial/Price Quote


Reference Material:
Download/View NextGENe® Brochure
NextGENe User Manual
Annotated Reference Genomes


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SoftGenetics - Software PowerTools for Genetic Analysis


SoftGenetics - Software PowerTools for Genetic Analysis




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SoftGenetics - Software PowerTools for Genetic Analysis

100 Oakwood Avenue | Suite 350 | State College, PA 16803 | USA
Phone: 814-237-9340 or 888-791-1270


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