SoftGenetics - Software PowerTools for Genetic Analysis
 
       

 

Pathogenicity Calling Information

Geneticist Assistant NGS Interpretative Workbench provides Variant Interpretation, Functional Prediction, Conservation Scores and Disease Associations on each found variant from over 17 sources providing the information in a single view. Once a call has been made and confirmed the research is stored in the database and applied to future recurrences of the variant either in the same disease panel or in any other panel, significantly reducing time and effort on future reiterations of the variant in future analysis.


Geneticist Assistant Workbench provides a complete overview of information regarding variant pathogenicity in one detailed view. Prior samples which exhibited variant are also detailed.

 

Sources included:

 

Variant Interpretation:
• dbSNP
• Exome Variant Server

 

Functional Prediction:
• SIFT
• Polyphen-2
• LRT
• MutationTaster
• MutationAssessor
• FATHMM
• CADD

 

Population frequencies:
1000 Genomes and Exome Variant Server

 

Conservation Scores:
• phyloP
• phastCons
• GERP++
• SiPhy

 

Disease Association:
• COSMIC
• ClinVar
• OMIM
• Alamut (license required)
• LOVD

 

Click here for detailed information on included databases

SoftGenetics - Software PowerTools for Genetic Analysis

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Email: info@softgenetics.com

 

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