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
Contact Illumina technical support at techsupport@illumina.com.
The platform is operated from the .
From here you can enter:
To enter the flow, click on the namesake button on the . Here:
Select file type.
Upload files.
Create a family tree.
Select a case to review on the . You'll be directed to the that:
Showcases an AI-curated shortlist of variants suggested to be checked first, namely and
Provides numerous customizable to help you explore the total list of genetic variants by yourself
Add phenotypes.
Specify analysis details.
Launch the analysis!
Investigate the evidence on the and assign appropriate to the variants of interest.
When you're ready to , indicate the end result of the analysis and variants to be reported in the Case interpretation widget.