SoftGenetics - Software PowerTools for Genetic Analysis




Efficient...Saves Time & Resources * Controls...Real-time Administration & Reporting
* For...Disease Panels and Whole Exome Sequencing data * Compatible...with data from all NGS Systems


Developed in collaboration with the Laboratory Medicine, Information Technology and Health Science Research departments of Mayo Clinic, Geneticist Assistant NGS Interpretative Workbench is a unique tool for the management, control, visualization, functional interpretation and historical knowledge base of next generation sequencing Whole Exome data or targeted at specific genes for the purpose of identifying potentially pathogenic variants associated with specific conditions such as hereditary colon cancer and others.


Geneticist Assistant is compatible with data processed from all leading next generation sequencing platforms including Ion Torrent, Illumina and Roche platforms. The program accepts standardized BAM and VCF files, and includes information from the following sources:


Functional Prediction information:
SIFT, PolyPhen2, LRT, Mutation Taster, FATHMM, CADD & Mutation Assessor


Disease association:


Conservation scores:
PhyloP, GERP++, phastCons & SiPhy


Population frequencies:
1000 Genomes and Exome Variant Server


Additionally, information from proprietary databases such as Alamut and LOVD are easily accessible through embedded links. Information from other publicly available data bases are easily imported into the workbench.


The new administration function provides a real-time tracking of current statuses; historical information; automated email notifications within a completely customizable work flow built to model your actual activities.


Unique tools include CAP Validation Assistance, automated .BED file builder which automatically highlights areas of clinical significance, Positive Control Verification, and in conjunction with NextGENe software can form a completely automated informatics pipeline.


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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





SoftGenetics - Software PowerTools for Genetic Analysis

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Suite 350
State College, PA 16803

Phone: 814-237-9340 or 888-791-1270


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