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Rapid Diagnosis of Genetic Disorders Knowledge-driven Analysis, Interpretation & Reporting Many clinical exome sequencing studies report diagnostic yields on the order of 25 percent, meaning that about three quarters of patients are left without a molecular diagnosis. TGex enables you to increase your yields and reduce your analysis time from hours or days to minutes, on a HIPAA-ready, secure, scalable cloud service or within your network. Why TGex? TGex is a novel, knowledge-driven Next Generation Sequencing (NGS) analysis, interpretation and reporting platform based on the GeneCards Suite Knowledgebase. It enables rapid diagnosis of causal mutations, collecting clinical and molecular information from >120 data sources, and prioritizing variants based on their association with patients’ exhibited phenotypes. To date, TGex and the GeneCards Suite have helped in the analysis of thousands of NGS cases world-wide. Benefits and Features Automatically scores and prioritizes variants based on association with disease/phenotypes of interest Provides comprehensive evidence for each association for evaluation of variants Leverages the extensive data available in the GeneCards Suite Knowledgebase, from >120 data sources Supports free-text searching for phenotypes, as well as direct and indirect gene-phenotype relationships ANALYSIS REPORT Designed for single samples, trios and pedigree trees (incl. integrated compound heterozygous analysis) “ “I have had the pleasure of working with TGex and VarElect... which have an uncanny ability in discovering the right “culpable” variant in complex cases studied with whole exome sequence (WES). They are simple to use and yet most efficient… I recommend them very strongly.” - Prof. Sergio D.J. Pena, MD, PhD, FRCP(C) © 2016 LifeMap Sciences | tgex.genecards.org Powered by the GeneCards® Suite Knowledgebase CASE GENERAL Patient information Data sources Specimen information Methods Clinical information Disclaimers VARIANT GENE Variant information Clinical significance Clinical significance ClinVar summary Relevance & Notes Phenotype evidence TGex - Translational Genomics Expert Powerful management system that adapts to your needs Manage all your analyses, samples and reports in a centralized location Streamline your analysis processes using customizable and flexible workflows Perform sophisticated meta analysis on your ever-growing sample database Define your own virtual gene panels and variant maps, and predefined filters Integrated and easy-to-use analysis & interpretation view Clear presentation of all metadata relevant for the analysis and interpretation of variants Sophisticated classification of variant attributes in an interactive matrix Simplified, integrated support for analysis of multiple genetic models Supports the integration of your own internal or licensed data to enrich your analyses Automatic, customizable reports with a click of a button Comprehensive clinical evidence and relevant literature automatically included in reports Fully customizable reports including selection of data throughout design Adaptive reporting per workflow and per target customer Supports the integration of your own internal or licensed data to enrich your reports Flexible deployments, APIs and Integrations Accessible on Microsoft’s Azure secure cloud or installed within your secure network Integrates with your existing primary and secondary pipelines using straightforward APIs Supports integration of in-house and licensed data into the analysis or to enrich reports Custom data analytics may be provided on any feature of your samples COMPLIANT WITH AUDITED FOR ACMG GUIDELINES VALIDATED FOR PARTNERED WITH CLIA-CAP LABORATORIES Powered by the GeneCardsSuite © 2016 LifeMap Sciences | tgex.genecards.org Powered by the GeneCards® Suite Knowledgebase Integrating >120 key data sources, the GeneCards® Suite Knowledgebase empowers your NGS analysis by highlighting associations between genes and phenotypes, providing supporting evidence for immediate evaluation and automatically generating analysis reports.