SoftGenetics - Software PowerTools for Genetic Analysis
 
       

 

Historical Database Development

Geneticist Assistant NGS Interpretative Workbench records variant pathogenicity determination on all found variants, eliminating time consuming duplication of researching the variant, thus speeding diagnosis while reducing costs. As the database is used the number of variants requiring pathogenicity calling is quickly reduced to a few novel variants.


Historical information on every found variant is recorded and available for instant recall. Additionally prior pathogenicity determination is logged by specific disease panel and globally for all disease panels. The variant review tab provides previously determined variant type, pathogenicity, variant frequency, HGVS coding, HGVS Protein, times observed, number of times observed in disease panel, and panel group.

 

Use of the workbench will quickly reduce unnecessary pathogenicity research duplication, speeding diagnoses and reducing costs.

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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