Download Rapid Diagnosis of Genetic Disorders - TGex

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.