Get started with Emedgene

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

Look around

The platform is operated from the top navigation panel.

By clicking on the corresponding buttons, you can enter:

• Cases tab

• Add new case page

• Emedgene applications menu

• Help dropdown menu

• Settings dropdown menu

Create a case

To enter the Add new case flow, click on the namesake button on the top navigation panel. Here:

1

Select file type

2

Upload files

3

Create a family tree

4

Annotate each sample with clinical information

5

Specify analysis details

6

Launch the analysis!

Your case status will be In progress. You'll be notified when results are ready and the case is in status Delivered.

Examine the analysis results

1

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

2

Investigate the evidence on the Variant page and assign appropriate tags to the variants of interest.

3

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.