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.

NextGENe's 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

 

In this family of 6, with two affected children, the exomes of the entire family, mother, father, two normal as well as the two affected children were sequenced. The nearly 280,000 shared variants were quickly reduced by NextGENe's 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
Reducing error of NGS Sequencing data with NextGENe Condensation™ Tool
Alignment of PGM PE reads with NextGENe software
Processing Paired End Sequencing Data from the Ion PGM™ Sequencer with NextGENe® Software
Processing Ion PGM™ Sequencing Data with NextGENe Software
Processing CFTR Amplicon Data from the Ion PGM™ using NextGENe® Software
Processing Ion AmpliSeq™ Cancer Panel Data using NextGENe® Software
Amplicon Sequence Analysis of Sanger Sequences and Ion PGM data
NextGENe Illumina SNP_Indel_Detection
NextGENe SNP_ Indel_Discovery_SOLID
SNP_INDEL_detection_Roche454
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
Paired end read merging with NextGENe software
Sequence Analysis Using Barcode/Index Tags of Pooled Samples with NextGENe Software
Using NextGENe software's Pipeline Automation Tool
Plugin for Torrent Browser automation
Demultiplexing Illumina® MiSeq™ Data

 

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

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SoftGenetics - Software PowerTools for Genetic Analysis

 

 

 

 

SoftGenetics - Software PowerTools for Genetic Analysis
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Suite 350
State College, PA 16803
USA


Phone: 814-237-9340 or 888-791-1270
Email: info@softgenetics.com

 

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