Welcome to Emedgene, where we unlock genomic insights for hereditary disease and streamline your tertiary analysis workflows.
So you've signed in and can't wait to get started? Here we will guide you through the platform architecture, case creation, and results review. You can dive a bit deeper by following the links and exploring manuals for the platform's applications:
Analyze—Genomic analysis workbench, where you can accession, interpret, curate and report on your cases, while also efficiently managing the lab workflow
Curate—A repository for all of your organizational curated knowledge
The platform is operated from the top navigation panel.
By clicking on the corresponding buttons, you can enter:
Cases tab
Add new case page
Help dropdown menu
Settings dropdown menu
To enter the Add new case flow, click on the namesake button on the top navigation panel. Here:
Select file type
Upload files
Create a family tree
Annotate each sample with clinical information
Specify analysis details
Launch the analysis!
Select a case to review on the Cases tab. You'll be directed to the Individual case page that:
Showcases an AI-curated shortlist of variants suggested to be checked first, namely Most Likely Candidates and Candidates
Provides numerous customizable filters to help you explore the total list of genetic variants by yourself
Documents all the case-related information like Case status, sample quality metrics, and versions of all the resources used during case analysis
Investigate the evidence on the Variant page and assign appropriate tags to the variants of interest.
When you're ready to finalize the case, indicate the end result of the analysis and variants to be reported in the Case interpretation widget.